{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:46:08Z","timestamp":1793155568276,"version":"4.5.0"},"reference-count":173,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Oral Sci"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Tooth developmental anomalies are a group of disorders caused by unfavorable factors affecting the tooth development process, resulting in abnormalities in tooth number, structure, and morphology. These anomalies typically manifest during childhood, impairing dental function, maxillofacial development, and facial aesthetics, while also potentially impacting overall physical and mental health. The complex etiology and diverse clinical phenotypes of these anomalies pose significant challenges for prevention, early diagnosis, and treatment. As they usually emerge early in life, long-term management and multidisciplinary collaboration in dental care are essential. However, there is currently a lack of systematic clinical guidelines for the diagnosis and treatment of these conditions, adding to the difficulties in clinical practice. In response to this need, this expert consensus summarizes the classifications, etiology, typical clinical manifestations, and diagnostic criteria of tooth developmental anomalies based on current clinical evidence. It also provides prevention strategies and stage-specific clinical management recommendations to guide clinicians in diagnosis and treatment, promoting early intervention and standardized care for these anomalies.<\/jats:p>","DOI":"10.1038\/s41368-025-00401-8","type":"journal-article","created":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:01:45Z","timestamp":1768867305000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expert consensus on the diagnosis and management of tooth developmental anomalies"],"prefix":"10.1038","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0095-654X","authenticated-orcid":false,"given":"Jingxian","family":"Zhu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mian","family":"Wan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6747-1734","authenticated-orcid":false,"given":"Xiaohong","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0629-3476","authenticated-orcid":false,"given":"Zhipeng","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4323-0506","authenticated-orcid":false,"given":"Yao","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xudong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuguo","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0467-1720","authenticated-orcid":false,"given":"Liwei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinglin","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiewen","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9625-3384","authenticated-orcid":false,"given":"Dong","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8255-8072","authenticated-orcid":false,"given":"Miao","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9582-7198","authenticated-orcid":false,"given":"Cui","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuegui","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0129-0367","authenticated-orcid":false,"given":"Zhonglin","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihuai","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6899-5994","authenticated-orcid":false,"given":"Yongchu","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiemei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8902-1243","authenticated-orcid":false,"given":"Baoshan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanli","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenjin","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuan","family":"Bian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0747-7381","authenticated-orcid":false,"given":"Yaling","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"401_CR1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.184754","volume":"147","author":"T Yu","year":"2020","unstructured":"Yu, T. & Klein, O. D. Molecular and cellular mechanisms of tooth development, homeostasis and repair. Development 147, dev184754 (2020).","journal-title":"Development"},{"key":"401_CR2","doi-asserted-by":"publisher","first-page":"374","DOI":"10.1242\/dev.137216","volume":"144","author":"J Li","year":"2017","unstructured":"Li, J., Parada, C. & Chai, Y. Cellular and molecular mechanisms of tooth root development. Development 144, 374\u2013384 (2017).","journal-title":"Development"},{"key":"401_CR3","doi-asserted-by":"publisher","first-page":"S3","DOI":"10.1016\/j.archoralbio.2009.09.005","volume":"54","author":"AH Brook","year":"2009","unstructured":"Brook, A. H. Multilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development. Arch. Oral. Biol. 54, S3\u2013S17 (2009).","journal-title":"Arch. Oral. Biol."},{"key":"401_CR4","doi-asserted-by":"crossref","unstructured":"Kotsanos, N., Papagerakis, P., Sarnat, H. & Bloch-Zupan, A. in Pediatric Dentistry (eds Nikolaos Kotsanos, Haim Sarnat, & Kitae Park) 415-463 (Springer International Publishing, 2022).","DOI":"10.1007\/978-3-030-78003-6_17"},{"key":"401_CR5","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1590\/S1806-83242011000600010","volume":"25","author":"F Vargas-Ferreira","year":"2011","unstructured":"Vargas-Ferreira, F. & Ardenghi, T. M. Developmental enamel defects and their impact on child oral health-related quality of life. Braz. Oral. Res. 25, 531\u2013537 (2011).","journal-title":"Braz. Oral. Res."},{"key":"401_CR6","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1136\/jmg.2007.056911","volume":"45","author":"YL Song","year":"2008","unstructured":"Song, Y. L., Wang, C. N., Fan, M. W., Su, B. & Bian, Z. Dentin phosphoprotein frameshift mutations in hereditary dentin disorders and their variation patterns in normal human population. J. Med. Genet. 45, 457\u2013464 (2008).","journal-title":"J. Med. Genet."},{"key":"401_CR7","doi-asserted-by":"publisher","first-page":"e69","DOI":"10.1016\/j.oooo.2014.09.002","volume":"119","author":"C Zhang","year":"2015","unstructured":"Zhang, C., Song, Y. & Bian, Z. Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature. Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. 119, e69\u2013e76 (2015).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio."},{"key":"401_CR8","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1007\/s40368-022-00737-3","volume":"23","author":"SB Appelstrand","year":"2022","unstructured":"Appelstrand, S. B., Robertson, A. & Sabel, N. Patient-reported outcome measures in individuals with amelogenesis imperfecta: a systematic review. Eur. Arch. Paediatr. Dent. 23, 885\u2013895 (2022).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR9","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/s41368-022-00208-x","volume":"15","author":"H Zhang","year":"2023","unstructured":"Zhang, H., Gong, X., Xu, X., Wang, X. & Sun, Y. Tooth number abnormality: from bench to bedside. Int J. Oral. Sci. 15, 5 (2023).","journal-title":"Int J. Oral. Sci."},{"key":"401_CR10","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/S0925-4773(99)00322-6","volume":"92","author":"J Jernvall","year":"2000","unstructured":"Jernvall, J. & Thesleff, I. Reiterative signaling and patterning during mammalian tooth morphogenesis. Mech. Dev. 92, 19\u201329 (2000).","journal-title":"Mech. Dev."},{"key":"401_CR11","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1111\/adj.12104","volume":"59","author":"WK Seow","year":"2014","unstructured":"Seow, W. K. Developmental defects of enamel and dentine: challenges for basic science research and clinical management. Aust. Dent. J. 59, 143\u2013154 (2014).","journal-title":"Aust. Dent. J."},{"key":"401_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jdent.2017.03.006","volume":"60","author":"FS Costa","year":"2017","unstructured":"Costa, F. S. et al. Developmental defects of enamel and dental caries in the primary dentition: A systematic review and meta-analysis. J. Dent. 60, 1\u20137 (2017).","journal-title":"J. Dent."},{"key":"401_CR13","first-page":"494","volume":"55","author":"XH Duan","year":"2020","unstructured":"Duan, X. H. The first edition of oral rare diseases list. Zhonghua Kou Qiang Yi Xue Za Zhi 55, 494\u2013500 (2020).","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"401_CR14","first-page":"236","volume":"7","author":"CJ Witkop","year":"1957","unstructured":"Witkop, C. J. Hereditary defects in enamel and dentin. Acta Genet Stat. Med. 7, 236\u2013239 (1957).","journal-title":"Acta Genet Stat. Med."},{"key":"401_CR15","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-17","volume":"2","author":"PJ Crawford","year":"2007","unstructured":"Crawford, P. J., Aldred, M. & Bloch-Zupan, A. Amelogenesis imperfecta. Orphanet. J. Rare Dis. 2, 17 (2007).","journal-title":"Orphanet. J. Rare Dis."},{"key":"401_CR16","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1111\/odi.15207","volume":"31","author":"X Duan","year":"2024","unstructured":"Duan, X. et al. Spectrum of craniofacial and oral malformations in China, a multicenter study. Oral. Dis. 31, 1245\u20131254 (2024).","journal-title":"Oral. Dis."},{"key":"401_CR17","doi-asserted-by":"publisher","first-page":"435","DOI":"10.3389\/fphys.2017.00435","volume":"8","author":"CEL Smith","year":"2017","unstructured":"Smith, C. E. L. et al. Amelogenesis Imperfecta; Genes, Proteins, and Pathways. Front. Physiol. 8, 435 (2017).","journal-title":"Front. Physiol."},{"key":"401_CR18","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1111\/j.1600-0528.1986.tb01537.x","volume":"14","author":"S Sundell","year":"1986","unstructured":"Sundell, S. & Valentin, J. Hereditary aspects and classification of hereditary amelogenesis imperfecta. Community Dent. Oral. Epidemiol. 14, 211\u2013216 (1986).","journal-title":"Community Dent. Oral. Epidemiol."},{"key":"401_CR19","doi-asserted-by":"publisher","first-page":"1980","DOI":"10.1002\/ajmg.a.32864","volume":"149a","author":"AF Visinoni","year":"2009","unstructured":"Visinoni, A. F., Lisboa-Costa, T., Pagnan, N. A. & Chautard-Freire-Maia, E. A. Ectodermal dysplasias: clinical and molecular review. Am. J. Med. Genet. A 149a, 1980\u20132002 (2009).","journal-title":"Am. J. Med. Genet. A"},{"key":"401_CR20","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2023.105849","volume":"157","author":"J Quan","year":"2024","unstructured":"Quan, J., Liu, Y., Ji, L., Zhao, Y. & Zheng, S. A novel DLX3 mutation causes tricho-dento-osseous syndrome with abnormal enamel structure and formation. Arch. Oral. Biol. 157, 105849 (2024).","journal-title":"Arch. Oral. Biol."},{"key":"401_CR21","unstructured":"Wright, J. T. & Meyer, B. D. in Pediatric Dentistry (eds Arthur J. Nowak et al.) Ch. 3, 129-170. e123 (Elsevier, 2019)."},{"key":"401_CR22","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1177\/154405910708600502","volume":"86","author":"JW Kim","year":"2007","unstructured":"Kim, J. W. & Simmer, J. P. Hereditary dentin defects. J. Dent. Res. 86, 392\u2013399 (2007).","journal-title":"J. Dent. Res."},{"key":"401_CR23","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-31","volume":"3","author":"MJ Barron","year":"2008","unstructured":"Barron, M. J., McDonnell, S. T., Mackie, I. & Dixon, M. J. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J. Rare Dis. 3, 31 (2008).","journal-title":"Orphanet J. Rare Dis."},{"key":"401_CR24","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1016\/0003-9969(73)90075-7","volume":"18","author":"ED Shields","year":"1973","unstructured":"Shields, E. D., Bixler, D. & El-Kafrawy, A. M. A proposed classification for heritable human dentine defects with a description of a new entity. Arch. Oral. Biol. 18, 543\u2013553 (1973).","journal-title":"Arch. Oral. Biol."},{"key":"401_CR25","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S0011-8532(22)00655-3","volume":"19","author":"CJ Witkop Jr","year":"1975","unstructured":"Witkop, C. J. Jr. Hereditary defects of dentin. Dent. Clin. North Am. 19, 25\u201345 (1975).","journal-title":"Dent. Clin. North Am."},{"key":"401_CR26","doi-asserted-by":"publisher","first-page":"2376","DOI":"10.1111\/odi.14589","volume":"29","author":"T Su","year":"2023","unstructured":"Su, T., Zhu, Y., Wang, X., Zhu, Q. & Duan, X. Hereditary dentin defects with systemic diseases. Oral. Dis. 29, 2376\u20132393 (2023).","journal-title":"Oral. Dis."},{"key":"401_CR27","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1016\/j.oooo.2014.03.014","volume":"118","author":"HS Lee","year":"2014","unstructured":"Lee, H. S. et al. A new type of dental anomaly: molar-incisor malformation (MIM). Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. 118, 101\u2013109.e103 (2014).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio."},{"key":"401_CR28","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1111\/ipd.12592","volume":"30","author":"RJ Vargo","year":"2020","unstructured":"Vargo, R. J. et al. Molar-incisor malformation: Eight new cases and a review of the literature. Int. J. Paediatr. Dent. 30, 216\u2013224 (2020).","journal-title":"Int. J. Paediatr. Dent."},{"key":"401_CR29","doi-asserted-by":"publisher","first-page":"5s80","DOI":"10.1016\/S0929-693X(18)30020-4","volume":"24","author":"A Bloch-Zupan","year":"2017","unstructured":"Bloch-Zupan, A. & Vaysse, F. Hypophosphatasia: oral cavity and dental disorders. Arch. Pediatr. 24, 5s80\u201384 (2017).","journal-title":"Arch. Pediatr."},{"key":"401_CR30","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1210\/er.2013-1009","volume":"35","author":"BL Foster","year":"2014","unstructured":"Foster, B. L., Nociti, F. H. Jr & Somerman, M. J. The rachitic tooth. Endocr. Rev. 35, 1\u201334 (2014).","journal-title":"Endocr. Rev."},{"key":"401_CR31","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1111\/adj.12513","volume":"62","author":"J Zhu","year":"2017","unstructured":"Zhu, J., Wang, X., Fang, Y., Von den Hoff, J. & Meng, L. An update on the diagnosis and treatment of dens invaginatus. Aust. Dent. J. 62, 261\u2013275 (2017).","journal-title":"Aust. Dent. J."},{"key":"401_CR32","first-page":"765","volume":"105","author":"M H\u00fclsmann","year":"1995","unstructured":"H\u00fclsmann, M. Dens invaginatus-its etiology, incidence and clinical characteristics (I). A review]. Schweiz Monatsschr. Zahnmed. 105, 765\u2013776 (1995).","journal-title":"Schweiz Monatsschr. Zahnmed."},{"key":"401_CR33","first-page":"840","volume":"37","author":"X Hu","year":"2021","unstructured":"Hu, X. et al. Prevalence of teeth with dens invaginatus in 3038 cases of cone beam computed tomography data in Jilin Province. Kou Qiang Yi Xue Yan Jiu 37, 840\u2013844 (2021).","journal-title":"Kou Qiang Yi Xue Yan Jiu"},{"key":"401_CR34","doi-asserted-by":"publisher","first-page":"1204","DOI":"10.1016\/0030-4220(57)90077-4","volume":"10","author":"FA Oehlers","year":"1957","unstructured":"Oehlers, F. A. Dens invaginatus (dilated composite odontome). I. Variations of the invagination process and associated anterior crown forms. Oral. Surg. Oral. Med Oral. Pathol. 10, 1204\u20131218 (1957). contd.","journal-title":"Oral. Surg. Oral. Med Oral. Pathol."},{"key":"401_CR35","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1016\/0030-4220(58)90278-0","volume":"11","author":"FA Oehlers","year":"1958","unstructured":"Oehlers, F. A. The radicular variety of dens invaginatus. Oral. Surg. Oral. Med Oral. Pathol. 11, 1251\u20131260 (1958).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol."},{"key":"401_CR36","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1111\/j.1365-2591.2008.01388.x","volume":"41","author":"H Jafarzadeh","year":"2008","unstructured":"Jafarzadeh, H., Azarpazhooh, A. & Mayhall, J. Taurodontism: a review of the condition and endodontic treatment challenges. Int Endod. J. 41, 375\u2013388 (2008).","journal-title":"Int Endod. J."},{"key":"401_CR37","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/s41405-021-00081-6","volume":"7","author":"M Chetty","year":"2021","unstructured":"Chetty, M., Roomaney, I. A. & Beighton, P. Taurodontism in dental genetics. BDJ Open 7, 25 (2021).","journal-title":"BDJ Open"},{"key":"401_CR38","doi-asserted-by":"publisher","first-page":"S13","DOI":"10.4103\/0975-7406.137252","volume":"6","author":"J Dineshshankar","year":"2014","unstructured":"Dineshshankar, J. et al. Taurodontism. J. Pharm. Bioallied Sci. 6, S13\u2013S15 (2014).","journal-title":"J. Pharm. Bioallied Sci."},{"key":"401_CR39","doi-asserted-by":"publisher","first-page":"2334","DOI":"10.1111\/odi.14599","volume":"29","author":"J Dong","year":"2023","unstructured":"Dong, J., Ruan, W. & Duan, X. Molecular-based phenotype variations in amelogenesis imperfecta. Oral. Dis. 29, 2334\u20132365 (2023).","journal-title":"Oral. Dis."},{"key":"401_CR40","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1007\/s00438-020-01668-8","volume":"295","author":"I Nitayavardhana","year":"2020","unstructured":"Nitayavardhana, I. et al. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra. Mol. Genet Genomics 295, 923\u2013931 (2020).","journal-title":"Mol. Genet Genomics"},{"key":"401_CR41","first-page":"53","volume":"27","author":"JN Ding","year":"2024","unstructured":"Ding, J. N. et al. FAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features. Chin. J. Dent. Res. 27, 53\u201363(2024).","journal-title":"Chin. J. Dent. Res."},{"key":"401_CR42","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2023.1130175","volume":"14","author":"A Bloch-Zupan","year":"2023","unstructured":"Bloch-Zupan, A. et al. Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop\u2019s classification. Front. Physiol. 14, 1130175 (2023).","journal-title":"Front. Physiol."},{"key":"401_CR43","doi-asserted-by":"publisher","first-page":"800","DOI":"10.3389\/fgene.2019.00800","volume":"10","author":"LJJ Gowans","year":"2019","unstructured":"Gowans, L. J. J. et al. Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus. Front. Genet. 10, 800 (2019).","journal-title":"Front. Genet."},{"key":"401_CR44","doi-asserted-by":"publisher","first-page":"2258","DOI":"10.1002\/ajmg.a.35488","volume":"158a","author":"PN Kantaputra","year":"2012","unstructured":"Kantaputra, P. N., Chinadet, W., Ohazama, A. & Kono, M. Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo\/hyperpigmented hair, and dental anomalies: report of a novel ADAR1 mutation. Am. J. Med. Genet. A 158a, 2258\u20132265 (2012).","journal-title":"Am. J. Med. Genet. A"},{"key":"401_CR45","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/ajmg.a.60682","volume":"179","author":"M Yu","year":"2019","unstructured":"Yu, M. et al. Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia. Am. J. Med. Genet. A 179, 57\u201364 (2019).","journal-title":"Am. J. Med. Genet. A"},{"key":"401_CR46","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1177\/0022034519897607","volume":"99","author":"M Yu","year":"2020","unstructured":"Yu, M. et al. Epithelial Wnt10a Is Essential for Tooth Root Furcation Morphogenesis. J. Dent. Res. 99, 311\u2013319 (2020).","journal-title":"J. Dent. Res."},{"key":"401_CR47","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/s41368-024-00288-x","volume":"16","author":"K Sun","year":"2024","unstructured":"Sun, K. et al. A Wnt10a-Notch signaling axis controls Hertwig\u2019s epithelial root sheath cell behaviors during root furcation patterning. Int J. Oral. Sci. 16, 25 (2024).","journal-title":"Int J. Oral. Sci."},{"key":"401_CR48","doi-asserted-by":"publisher","first-page":"bcr2012008490","DOI":"10.1136\/bcr-2012-008490","volume":"2013","author":"RPS Mohan","year":"2013","unstructured":"Mohan, R. P. S., Verma, S., Agarwal, N. & Singh, U. Taurodontism. BMJ Case Rep. 2013, bcr2012008490 (2013).","journal-title":"BMJ Case Rep."},{"key":"401_CR49","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1016\/S0140-6736(73)90857-X","volume":"2","author":"RJ Purvis","year":"1973","unstructured":"Purvis, R. J. et al. Enamel hypoplasia of the teeth associated with neonatal tetany: a manifestation of maternal vitamin-D deficiency. Lancet 2, 811\u2013814 (1973).","journal-title":"Lancet"},{"key":"401_CR50","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1111\/j.1601-0825.2009.01629.x","volume":"16","author":"MA Vell\u00f3","year":"2010","unstructured":"Vell\u00f3, M. A. et al. Prenatal and neonatal risk factors for the development of enamel defects in low birth weight children. Oral. Dis. 16, 257\u2013262 (2010).","journal-title":"Oral. Dis."},{"key":"401_CR51","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1002\/(SICI)1096-8644(199809)107:1<25::AID-AJPA3>3.0.CO;2-C","volume":"107","author":"S Hillson","year":"1998","unstructured":"Hillson, S., Grigson, C. & Bond, S. Dental defects of congenital syphilis. Am. J. Phys. Anthropol. 107, 25\u201340 (1998).","journal-title":"Am. J. Phys. Anthropol."},{"key":"401_CR52","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1111\/eos.12094","volume":"122","author":"PE Jacobsen","year":"2014","unstructured":"Jacobsen, P. E., Haubek, D., Henriksen, T. B., \u00d8stergaard, J. R. & Poulsen, S. Developmental enamel defects in children born preterm: a systematic review. Eur. J. Oral. Sci. 122, 7\u201314 (2014).","journal-title":"Eur. J. Oral. Sci."},{"key":"401_CR53","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1111\/j.1834-7819.1997.tb00102.x","volume":"42","author":"WK Seow","year":"1997","unstructured":"Seow, W. K. Effects of preterm birth on oral growth and development. Aust. Dent. J. 42, 85\u201391 (1997).","journal-title":"Aust. Dent. J."},{"key":"401_CR54","first-page":"297","volume":"11","author":"WK Seow","year":"1989","unstructured":"Seow, W. K., Masel, J. P., Weir, C. & Tudehope, D. I. Mineral deficiency in the pathogenesis of enamel hypoplasia in prematurely born, very low birthweight children. Pediatr. Dent. 11, 297\u2013302 (1989).","journal-title":"Pediatr. Dent."},{"key":"401_CR55","doi-asserted-by":"publisher","first-page":"701","DOI":"10.3389\/fphys.2018.00701","volume":"9","author":"J Hejlesen","year":"2018","unstructured":"Hejlesen, J. et al. Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review. Front. Physiol. 9, 701 (2018).","journal-title":"Front. Physiol."},{"key":"401_CR56","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.836708","volume":"10","author":"A-M Collignon","year":"2022","unstructured":"Collignon, A.-M. et al. Factors and mechanisms involved in acquired developmental defects of enamel: A scoping review. Front. Pediatr. 10, 836708 (2022).","journal-title":"Front. Pediatr."},{"key":"401_CR57","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/0003-9969(63)90003-7","volume":"8","author":"L Owen","year":"1963","unstructured":"Owen, L. The effects of administering tetracyclines to young dogs with particular reference to localization of the drugs in the teeth. Arch. Oral. Biol. 8, 715\u2013728 (1963).","journal-title":"Arch. Oral. Biol."},{"key":"401_CR58","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1159\/000077766","volume":"38","author":"C Robinson","year":"2004","unstructured":"Robinson, C. et al. The effect of fluoride on the developing tooth. Caries Res. 38, 268\u2013276 (2004).","journal-title":"Caries Res."},{"key":"401_CR59","first-page":"441","volume":"58","author":"WK Seow","year":"1991","unstructured":"Seow, W. K. Enamel hypoplasia in the primary dentition: a review. ASDC J. Dent. Child 58, 441\u2013452 (1991).","journal-title":"ASDC J. Dent. Child"},{"key":"401_CR60","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1007\/BF03262713","volume":"11","author":"S Alaluusua","year":"2010","unstructured":"Alaluusua, S. Aetiology of Molar-Incisor Hypomineralisation: A systematic review. Eur. Arch. Paediatr. Dent. 11, 53\u201358 (2010).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR61","doi-asserted-by":"publisher","first-page":"e0241898","DOI":"10.1371\/journal.pone.0241898","volume":"16","author":"M Bezamat","year":"2021","unstructured":"Bezamat, M. et al. Gene-environment interaction in molar-incisor hypomineralization. PLoS One 16, e0241898 (2021).","journal-title":"PLoS One"},{"key":"401_CR62","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1111\/ipd.13142","volume":"34","author":"AC Mafla","year":"2024","unstructured":"Mafla, A. C. et al. Association between psychological factors and molar-incisor hypomineralization: A cross-sectional study. Int J. Paediatr. Dent. 34, 442\u2013452 (2024).","journal-title":"Int J. Paediatr. Dent."},{"key":"401_CR63","first-page":"382","volume":"31","author":"D Ford","year":"2009","unstructured":"Ford, D., Seow, W. K., Kazoullis, S., Holcombe, T. & Newman, B. A controlled study of risk factors for enamel hypoplasia in the permanent dentition. Pediatr. Dent. 31, 382\u2013388 (2009).","journal-title":"Pediatr. Dent."},{"key":"401_CR64","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1034\/j.1600-0714.2000.290806.x","volume":"29","author":"L Aine","year":"2000","unstructured":"Aine, L. et al. Enamel defects in primary and permanent teeth of children born prematurely. J. Oral. Pathol. Med 29, 403\u2013409 (2000).","journal-title":"J. Oral. Pathol. Med"},{"key":"401_CR65","doi-asserted-by":"publisher","first-page":"2366","DOI":"10.1111\/odi.14568","volume":"29","author":"Y Zhang","year":"2023","unstructured":"Zhang, Y. et al. Epigenetics in developmental defects of enamel: A scoping review. Oral. Dis. 29, 2366\u20132375 (2023).","journal-title":"Oral. Dis."},{"key":"401_CR66","doi-asserted-by":"publisher","first-page":"251","DOI":"10.4103\/0976-237X.76395","volume":"1","author":"PR Geetha Priya","year":"2010","unstructured":"Geetha Priya, P. R., John, J. B. & Elango, I. Turner\u2019s hypoplasia and non-vitality: a case report of sequelae in permanent tooth. Contemp. Clin. Dent. 1, 251\u2013254 (2010).","journal-title":"Contemp. Clin. Dent."},{"key":"401_CR67","first-page":"321","volume":"12","author":"WK Seow","year":"1990","unstructured":"Seow, W. K., Perham, S., Young, W. G. & Daley, T. Dilaceration of a primary maxillary incisor associated with neonatal laryngoscopy. Pediatr. Dent. 12, 321\u2013324 (1990).","journal-title":"Pediatr. Dent."},{"key":"401_CR68","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1111\/edt.12695","volume":"38","author":"ES HG","year":"2022","unstructured":"HG, E. S., da Costa, V. P. P. & Goettems, M. L. Prognosis of primary teeth following intrusive luxation according to the degree of intrusion: A retrospective cohort study. Dent. Traumatol. 38, 34\u201340 (2022).","journal-title":"Dent. Traumatol."},{"key":"401_CR69","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1177\/154405910508400310","volume":"84","author":"JM Broadbent","year":"2005","unstructured":"Broadbent, J. M., Thomson, W. M. & Williams, S. M. Does caries in primary teeth predict enamel defects in permanent teeth? A longitudinal study. J. Dent. Res. 84, 260\u2013264 (2005).","journal-title":"J. Dent. Res."},{"key":"401_CR70","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1111\/j.1600-0714.1988.tb01332.x","volume":"17","author":"CJ Witkop Jr","year":"1988","unstructured":"Witkop, C. J. Jr Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J. Oral. Pathol. 17, 547\u2013553 (1988).","journal-title":"J. Oral. Pathol."},{"key":"401_CR71","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1007\/s10266-016-0266-1","volume":"104","author":"MM Sabandal","year":"2016","unstructured":"Sabandal, M. M. & Sch\u00e4fer, E. Amelogenesis imperfecta: review of diagnostic findings and treatment concepts. Odontology 104, 245\u2013256 (2016).","journal-title":"Odontology"},{"key":"401_CR72","first-page":"E079","volume":"10","author":"S Kumar","year":"2009","unstructured":"Kumar, S. & Gupta, S. The restoration of function and esthetics of a patient with amelogenesis imperfecta using a combination of orthodontic and prosthodontic treatment: a case report. J. Contemp. Dent. Pr. 10, E079\u2013E085 (2009).","journal-title":"J. Contemp. Dent. Pr."},{"key":"401_CR73","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1016\/0022-3913(66)90058-8","volume":"16","author":"W Malone","year":"1966","unstructured":"Malone, W. & Bazola, F. N. Early treatment of amelogenesis imperfecta. J. Prosthet. Dent. 16, 540\u2013544 (1966).","journal-title":"J. Prosthet. Dent."},{"key":"401_CR74","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.2307\/4582632","volume":"53","author":"HT Dean","year":"1938","unstructured":"Dean, H. T. Endemic fluorosis and its relation to dental caries. Public Health Rep. 53, 1443\u20131498 (1938).","journal-title":"Public Health Rep."},{"key":"401_CR75","doi-asserted-by":"publisher","first-page":"37","DOI":"10.14219\/jada.archive.1984.0268","volume":"109","author":"HS Horowitz","year":"1984","unstructured":"Horowitz, H. S., Driscoll, W. S., Meyers, R. J., Heifetz, S. B. & Kingman, A. A new method for assessing the prevalence of dental fluorosis-the Tooth Surface Index of Fluorosis. J. Am. Dent. Assoc. 109, 37\u201341 (1984).","journal-title":"J. Am. Dent. Assoc."},{"key":"401_CR76","unstructured":"National Health Commission of the People\u2019s Republic of China. Vol. WS\/T 208-2011 (China, 2011)."},{"key":"401_CR77","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1111\/j.1365-4632.2004.02108.x","volume":"43","author":"AR S\u00e1nchez","year":"2004","unstructured":"S\u00e1nchez, A. R., Rogers, R. S. 3rd & Sheridan, P. J. Tetracycline and other tetracycline-derivative staining of the teeth and oral cavity. Int J. Dermatol. 43, 709\u2013715 (2004).","journal-title":"Int J. Dermatol."},{"key":"401_CR78","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1007\/BF03262716","volume":"11","author":"NA Lygidakis","year":"2010","unstructured":"Lygidakis, N. A. et al. Best Clinical Practice Guidance for clinicians dealing with children presenting with Molar-Incisor-Hypomineralisation (MIH): An EAPD Policy Document. Eur. Arch. Paediatr. Dent. 11, 75\u201381 (2010).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR79","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/s40368-021-00668-5","volume":"23","author":"NA Lygidakis","year":"2022","unstructured":"Lygidakis, N. A. et al. Best clinical practice guidance for clinicians dealing with children presenting with molar-incisor-hypomineralisation (MIH): an updated European Academy of Paediatric Dentistry policy document. Eur. Arch. Paediatr. Dent. 23, 3\u201321 (2022).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR80","first-page":"e48870","volume":"15","author":"D Solanki","year":"2023","unstructured":"Solanki, D., Fulzele, P., Thosar, N. & Shirbhate, U. Management of Turner\u2019s Hypoplasia using resin infiltration: a case report. Cureus 15, e48870 (2023).","journal-title":"Cureus"},{"key":"401_CR81","first-page":"316","volume":"55","author":"YL Song","year":"2020","unstructured":"Song, Y. L. & Bian, Z. Gene mutations and disorders of dental hard tissues]. Zhonghua Kou Qiang Yi Xue Za Zhi 55, 316\u2013322 (2020).","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"401_CR82","unstructured":"Dental Management of Heritable Dental Developmental Anomalies. Pediatr. Dent. 39, 348\u2013353 (2017)."},{"key":"401_CR83","first-page":"305","volume":"58","author":"GH Yuan","year":"2023","unstructured":"Yuan, G. H. & Chen, Z. Progress in the classification of hereditary dentin disorders and clinical management strategies]. Zhonghua Kou Qiang Yi Xue Za Zhi 58, 305\u2013311 (2023).","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"401_CR84","first-page":"17","volume":"27","author":"J Jia","year":"2024","unstructured":"Jia, J., Bian, Z. & Song, Y. The Role of DSPP in dentine formation and hereditary dentine defects. Chin. J. Dent. Res 27, 17\u201328 (2024).","journal-title":"Chin. J. Dent. Res"},{"key":"401_CR85","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/0030-4220(83)90008-7","volume":"56","author":"LS Levin","year":"1983","unstructured":"Levin, L. S., Leaf, S. H., Jelmini, R. J., Rose, J. J. & Rosenbaum, K. N. Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentition. Oral. Surg. Oral. Med. Oral. Pathol. 56, 267\u2013274 (1983).","journal-title":"Oral. Surg. Oral. Med. Oral. Pathol."},{"key":"401_CR86","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1016\/j.tripleo.2005.06.020","volume":"102","author":"Y Song","year":"2006","unstructured":"Song, Y. et al. Phenotypes and genotypes in 2 DGI families with different DSPP mutations. Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. Endod. 102, 360\u2013374 (2006).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. Endod."},{"key":"401_CR87","doi-asserted-by":"publisher","DOI":"10.1186\/s12903-015-0149-9","volume":"15","author":"X Ye","year":"2015","unstructured":"Ye, X. et al. Dentin dysplasia type I-novel findings in deciduous and permanent teeth. BMC Oral. Health 15, 163 (2015).","journal-title":"BMC Oral. Health"},{"key":"401_CR88","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/S1079-2104(98)90121-4","volume":"86","author":"WW Kalk","year":"1998","unstructured":"Kalk, W. W., Batenburg, R. H. & Vissink, A. Dentin dysplasia type I: five cases within one family. Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. Endod. 86, 175\u2013178 (1998).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. Endod."},{"key":"401_CR89","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/0030-4220(77)90163-3","volume":"43","author":"ME Morris","year":"1977","unstructured":"Morris, M. E. & Augsburger, R. H. Dentine dysplasia with sclerotic bone and skeletal anomalies inherited as an autosomal dominant trait. A N. Syndr. Oral. Surg. Oral. Med Oral. Pathol. 43, 267\u2013283 (1977).","journal-title":"A N. Syndr. Oral. Surg. Oral. Med Oral. Pathol."},{"key":"401_CR90","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1177\/154405910608500409","volume":"85","author":"ML Beattie","year":"2006","unstructured":"Beattie, M. L. et al. Phenotypic variation in dentinogenesis imperfecta\/dentin dysplasia linked to 4q21. J. Dent. Res. 85, 329\u2013333 (2006).","journal-title":"J. Dent. Res."},{"key":"401_CR91","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1016\/j.joen.2008.08.027","volume":"34","author":"SK Lee","year":"2008","unstructured":"Lee, S. K., Hu, J. C., Lee, K. E., Simmer, J. P. & Kim, J. W. A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J. Endod. 34, 1470\u20131473 (2008).","journal-title":"J. Endod."},{"key":"401_CR92","doi-asserted-by":"publisher","first-page":"2394","DOI":"10.1111\/odi.14494","volume":"29","author":"M Yuan","year":"2023","unstructured":"Yuan, M. et al. A novel DSPP frameshift mutation causing dentin dysplasia type 2 and disease management strategies. Oral. Dis. 29, 2394\u20132400 (2023).","journal-title":"Oral. Dis."},{"key":"401_CR93","first-page":"766","volume":"58","author":"YL Song","year":"2023","unstructured":"Song, Y. L. & Bian, Z. Recognition on dentin dysplasia type \u2161]. Zhonghua Kou Qiang Yi Xue Za Zhi 58, 766\u2013771 (2023).","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"401_CR94","doi-asserted-by":"publisher","first-page":"e311","DOI":"10.1016\/j.oooo.2013.06.030","volume":"117","author":"CV Witt","year":"2014","unstructured":"Witt, C. V., Hirt, T., Rutz, G. & Luder, H. U. Root malformation associated with a cervical mineralized diaphragm-a distinct form of tooth abnormality?. Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. 117, e311\u2013e319 (2014).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio."},{"key":"401_CR95","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1016\/j.oooo.2016.11.024","volume":"123","author":"H Qari","year":"2017","unstructured":"Qari, H., Kessler, H., Narayana, N. & Premaraj, S. Symmetric multiquadrant isolated dentin dysplasia (SMIDD), a unique presentation mimicking dentin dysplasia type 1b. Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio. 123, e164\u2013e169 (2017).","journal-title":"Oral. Surg. Oral. Med Oral. Pathol. Oral. Radio."},{"key":"401_CR96","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.joen.2021.11.014","volume":"48","author":"JF Siqueira Jr","year":"2022","unstructured":"Siqueira, J. F. Jr et al. Dens Invaginatus: Clinical Implications and Antimicrobial Endodontic Treatment Considerations. J. Endod. 48, 161\u2013170 (2022).","journal-title":"J. Endod."},{"key":"401_CR97","first-page":"302","volume":"55","author":"C Zhang","year":"2020","unstructured":"Zhang, C. & Hou, B. X. Reconsideration of the diagnosis and treatment for dens invaginatus]. Zhonghua Kou Qiang Yi Xue Za Zhi 55, 302\u2013308 (2020).","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"401_CR98","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1034\/j.1601-0825.2002.02835.x","volume":"8","author":"MJ Aldred","year":"2002","unstructured":"Aldred, M. J. et al. Molecular analysis for genetic counselling in amelogenesis imperfecta. Oral. Dis. 8, 249\u2013253 (2002).","journal-title":"Oral. Dis."},{"key":"401_CR99","doi-asserted-by":"publisher","first-page":"254","DOI":"10.1007\/s00784-024-05636-z","volume":"28","author":"NF Hassib","year":"2024","unstructured":"Hassib, N. F., Mehrez, M., Mostafa, M. I. & Abdel-Hamid, M. S. Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling. Clin. Oral. Investig. 28, 254 (2024).","journal-title":"Clin. Oral. Investig."},{"key":"401_CR100","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1007\/s10897-008-9173-0","volume":"17","author":"B Meiser","year":"2008","unstructured":"Meiser, B., Irle, J., Lobb, E. & Barlow-Stewart, K. Assessment of the content and process of genetic counseling: a critical review of empirical studies. J. Genet. Couns. 17, 434\u2013451 (2008).","journal-title":"J. Genet. Couns."},{"key":"401_CR101","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1007\/s10897-017-0067-x","volume":"26","author":"L Madlensky","year":"2017","unstructured":"Madlensky, L. et al. A Rapid systematic review of outcomes studies in genetic counseling. J. Genet Couns. 26, 361\u2013378 (2017).","journal-title":"J. Genet Couns."},{"key":"401_CR102","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.sdentj.2013.10.004","volume":"25","author":"H Abukabbos","year":"2013","unstructured":"Abukabbos, H. & Al-Sineedi, F. Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report. Saudi Dent. J. 25, 159\u2013165 (2013).","journal-title":"Saudi Dent. J."},{"key":"401_CR103","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/BF03262745","volume":"11","author":"D Markovic","year":"2010","unstructured":"Markovic, D., Petrovic, B. & Peric, T. Case series: clinical findings and oral rehabilitation of patients with amelogenesis imperfecta. Eur. Arch. Paediatr. Dent. 11, 201\u2013208, (2010).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR104","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1038\/nrg.2016.97","volume":"17","author":"JR Vermeesch","year":"2016","unstructured":"Vermeesch, J. R., Voet, T. & Devriendt, K. Prenatal and pre-implantation genetic diagnosis. Nat. Rev. Genet 17, 643\u2013656 (2016).","journal-title":"Nat. Rev. Genet"},{"key":"401_CR105","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/S0140-6736(08)60074-4","volume":"371","author":"RL Goldenberg","year":"2008","unstructured":"Goldenberg, R. L., Culhane, J. F., Iams, J. D. & Romero, R. Epidemiology and causes of preterm birth. Lancet 371, 75\u201384 (2008).","journal-title":"Lancet"},{"key":"401_CR106","doi-asserted-by":"publisher","first-page":"e2318406","DOI":"10.1001\/jamanetworkopen.2023.18406","volume":"6","author":"M Hung","year":"2023","unstructured":"Hung, M. et al. A national study exploring the association between fluoride levels and dental fluorosis. JAMA Netw. Open 6, e2318406 (2023).","journal-title":"JAMA Netw. Open"},{"key":"401_CR107","first-page":"296","volume":"55","author":"LS Gu","year":"2020","unstructured":"Gu, L. S., Wei, X. & Ling, J. Q. Etiology, diagnosis, prevention and treatment of dental fluorosis]. Zhonghua Kou Qiang Yi Xue Za Zhi 55, 296\u2013301 (2020).","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"401_CR108","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1111\/edt.12576","volume":"36","author":"PF Day","year":"2020","unstructured":"Day, P. F. et al. International Association of Dental Traumatology guidelines for the management of traumatic dental injuries: 3. Injuries in the primary dentition. Dent. Traumatol. 36, 343\u2013359 (2020).","journal-title":"Dent. Traumatol."},{"key":"401_CR109","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1111\/eos.12528","volume":"126","author":"S Twetman","year":"2018","unstructured":"Twetman, S. Prevention of dental caries as a non-communicable disease. Eur. J. Oral. Sci. 126, 19\u201325 (2018).","journal-title":"Eur. J. Oral. Sci."},{"key":"401_CR110","unstructured":"Guideline on dental management of heritable dental developmental anomalies. Pediatr. Dent. 35, E179\u2013E184 (2013)."},{"key":"401_CR111","first-page":"e49968","volume":"15","author":"SS Bin Saleh","year":"2023","unstructured":"Bin Saleh, S. S. Etiology, classification, and restorative management of amelogenesis imperfecta among children and young adults: a scoping review. Cureus 15, e49968, (2023).","journal-title":"Cureus"},{"key":"401_CR112","doi-asserted-by":"publisher","first-page":"567","DOI":"10.2341\/15-372-T","volume":"41","author":"E Dursun","year":"2016","unstructured":"Dursun, E. et al. Management of Amelogenesis Imperfecta: A 15-year case history of two siblings. Oper. Dent. 41, 567\u2013577 (2016).","journal-title":"Oper. Dent."},{"key":"401_CR113","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1111\/scd.12500","volume":"40","author":"M Sarapultseva","year":"2020","unstructured":"Sarapultseva, M., Leleko, A. & Sarapultsev, A. Case report: Rehabilitation of a child with dentinogenesis imperfecta with CAD\/CAM approach: Three-year follow-up. Spec. Care Dent. 40, 511\u2013518 (2020).","journal-title":"Spec. Care Dent."},{"key":"401_CR114","doi-asserted-by":"publisher","first-page":"394","DOI":"10.5005\/jp-journals-10005-1472","volume":"10","author":"G Syriac","year":"2017","unstructured":"Syriac, G., Joseph, E., Rupesh, S. & Mathew, J. Complete Overlay Denture for Pedodontic Patient with Severe Dentinogenesis Imperfecta. Int J. Clin. Pediatr. Dent. 10, 394\u2013398 (2017).","journal-title":"Int J. Clin. Pediatr. Dent."},{"key":"401_CR115","doi-asserted-by":"publisher","first-page":"193","DOI":"10.17796\/jcpd.29.3.5238p10v21r2j162","volume":"29","author":"M Mariela Rodriguez Cordeiro","year":"2005","unstructured":"Mariela Rodriguez Cordeiro, M. & Jose de Carvalho Rocha, M. The effects of periradicular inflamation and infection on a primary tooth and permanent successor. J. Clin. Pediatr. Dent. 29, 193\u2013200 (2005).","journal-title":"J. Clin. Pediatr. Dent."},{"key":"401_CR116","doi-asserted-by":"publisher","first-page":"S76","DOI":"10.4103\/jomfp.JOMFP_172_20","volume":"25","author":"R Kaur","year":"2021","unstructured":"Kaur, R., Karadwal, A., Sharma, D. & Sandhu, M. K. Dentinogenesis imperfecta type II: Diagnosis, functional and esthetic rehabilitation in mixed dentition. J. Oral. Maxillofac. Pathol. 25, S76\u2013s80 (2021).","journal-title":"J. Oral. Maxillofac. Pathol."},{"key":"401_CR117","doi-asserted-by":"publisher","first-page":"7029","DOI":"10.3390\/ijerph17197029","volume":"17","author":"M Alrashdi","year":"2020","unstructured":"Alrashdi, M., Schoener, J., Contreras, C. I. & Chen, S. Full mouth rehabilitation of two siblings with Dentinogenesis Imperfecta Type II using different treatment modalities. Int J. Environ. Res Public Health 17, 7029 (2020).","journal-title":"Int J. Environ. Res Public Health"},{"key":"401_CR118","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1007\/BF03262769","volume":"11","author":"CT Leal","year":"2010","unstructured":"Leal, C. T., Martins, L. D., Verli, F. D., de Souza, M. A. & Ramos-Jorge, M. L. Case report: Clinical, histological and ultrastructural characterization of type II dentinogenesis imperfecta. Eur. Arch. Paediatr. Dent. 11, 306\u2013309 (2010).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR119","first-page":"303","volume":"19","author":"V Campanella","year":"2018","unstructured":"Campanella, V. et al. Indirect adhesive rehabilitation by cementation under pressure of a case of Dentinogenesis Imperfecta type II: follow-up after 13 years. Eur. J. Paediatr. Dent. 19, 303\u2013306 (2018).","journal-title":"Eur. J. Paediatr. Dent."},{"key":"401_CR120","first-page":"77","volume":"24","author":"N Tek\u00e7e","year":"2022","unstructured":"Tek\u00e7e, N., Demirci, M., Tuncer, S., G\u00fcder, G. & Sancak, E. I. Clinical performance of direct composite restorations in patients with Amelogenesis Imperfecta - Anterior Restorations. J. Adhes. Dent. 24, 77\u201386 (2022).","journal-title":"J. Adhes. Dent."},{"key":"401_CR121","first-page":"345","volume":"20","author":"S Soliman","year":"2018","unstructured":"Soliman, S., Meyer-Marcotty, P., Hahn, B., Halbleib, K. & Krastl, G. Treatment of an Adolescent Patient with Dentinogenesis Imperfecta using indirect composite restorations - a case report and literature review. J. Adhes. Dent. 20, 345\u2013354 (2018).","journal-title":"J. Adhes. Dent."},{"key":"401_CR122","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/7343094","volume":"2021","author":"NM Sawan","year":"2021","unstructured":"Sawan, N. M. Clear aligners in patients with Amelogenesis and Dentinogenesis Imperfecta. Int J. Dent. 2021, 7343094 (2021).","journal-title":"Int J. Dent."},{"key":"401_CR123","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1590\/S2176-94512013000600012","volume":"18","author":"J Valladares Neto","year":"2013","unstructured":"Valladares Neto, J., Rino Neto, J. & de Paiva, J. B. Orthodontic movement of teeth with short root anomaly: Should it be avoided, faced or ignored?. Dent. Press J. Orthod. 18, 72\u201385 (2013).","journal-title":"Dent. Press J. Orthod."},{"key":"401_CR124","doi-asserted-by":"publisher","first-page":"519","DOI":"10.3390\/children8060519","volume":"8","author":"A Papagiannis","year":"2021","unstructured":"Papagiannis, A. et al. Orthodontic treatment of a patient with Dentin Dysplasia Type I and bilateral maxillary canine impaction: case presentation and a family-based genetic analysis. Children 8, 519 (2021).","journal-title":"Children"},{"key":"401_CR125","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.adaj.2024.01.007","volume":"155","author":"C Meng","year":"2024","unstructured":"Meng, C., Le, D., Wang, X., Song, Y. & Song, G. Orthodontic treatment of a patient with dentinogenesis imperfecta using a clear aligner system. J. Am. Dent. Assoc. 155, 417\u2013425 (2024).","journal-title":"J. Am. Dent. Assoc."},{"key":"401_CR126","first-page":"7","volume":"16","author":"BC Yaman","year":"2014","unstructured":"Yaman, B. C. et al. Microtensile bond strength to enamel affected by hypoplastic amelogenesis imperfecta. J. Adhes. Dent. 16, 7\u201314 (2014).","journal-title":"J. Adhes. Dent."},{"key":"401_CR127","first-page":"9","volume":"7","author":"G Gallusi","year":"2006","unstructured":"Gallusi, G., Libonati, A. & Campanella, V. SEM-morphology in dentinogenesis imperfecta type II: microscopic anatomy and efficacy of a dentine bonding system. Eur. J. Paediatr. Dent. 7, 9\u201317 (2006).","journal-title":"Eur. J. Paediatr. Dent."},{"key":"401_CR128","first-page":"117","volume":"13","author":"JT Wright","year":"1993","unstructured":"Wright, J. T., Duggal, M. S., Robinson, C., Kirkham, J. & Shore, R. The mineral composition and enamel ultrastructure of hypocalcified amelogenesis imperfecta. J. Craniofac Genet Dev. Biol. 13, 117\u2013126 (1993).","journal-title":"J. Craniofac Genet Dev. Biol."},{"key":"401_CR129","doi-asserted-by":"publisher","first-page":"257","DOI":"10.17796\/1053-4625-43.4.6","volume":"43","author":"AM Ahmed","year":"2019","unstructured":"Ahmed, A. M., Nagy, D. & Elkateb, M. A. Etching patterns of sodium hypochlorite pretreated hypocalcified amelogenesis imperfecta primary molars: SEM Study. J. Clin. Pediatr. Dent. 43, 257\u2013262 (2019).","journal-title":"J. Clin. Pediatr. Dent."},{"key":"401_CR130","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1111\/j.1601-0825.2005.01199.x","volume":"12","author":"I Saro\u011flu","year":"2006","unstructured":"Saro\u011flu, I., Aras, S. & Ozta\u015f, D. Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. Oral. Dis. 12, 305\u2013308 (2006).","journal-title":"Oral. Dis."},{"key":"401_CR131","doi-asserted-by":"publisher","first-page":"384","DOI":"10.1111\/odi.12724","volume":"24","author":"R Kammoun","year":"2018","unstructured":"Kammoun, R., Behets, C., Mansour, L. & Ghoul-Mazgar, S. Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. Oral. Dis. 24, 384\u2013392 (2018).","journal-title":"Oral. Dis."},{"key":"401_CR132","doi-asserted-by":"publisher","DOI":"10.1111\/jicd.12276","volume":"9","author":"DJ Epasinghe","year":"2018","unstructured":"Epasinghe, D. J. & Yiu, C. K. Y. Effect of etching on bonding of a self-etch adhesive to dentine affected by amelogenesis imperfecta. J. Investig. Clin. Dent. 9, e12276 (2018).","journal-title":"J. Investig. Clin. Dent."},{"key":"401_CR133","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdent.2021.103654","volume":"109","author":"L Mass\u00e9","year":"2021","unstructured":"Mass\u00e9, L., Etienne, O., Noirrit-Esclassan, E., Bailleul-Forestier, I. & Garot, E. Dentine disorders and adhesive treatments: A systematic review. J. Dent. 109, 103654 (2021).","journal-title":"J. Dent."},{"key":"401_CR134","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/s41432-024-01037-z","volume":"25","author":"J Voinot","year":"2024","unstructured":"Voinot, J. & Bedez, M. Pretreatments to bonding on enamel and dentin disorders: a systematic review. Evid. Based Dent. 25, 215, (2024).","journal-title":"Evid. Based Dent."},{"key":"401_CR135","doi-asserted-by":"publisher","first-page":"7204","DOI":"10.3390\/ijerph18137204","volume":"18","author":"M M\u00f6hn","year":"2021","unstructured":"M\u00f6hn, M., Bulski, J. C., Kr\u00e4mer, N., Rahman, A. & Schulz-Weidner, N. Management of Amelogenesis Imperfecta in Childhood: Two Case Reports. Int J. Environ. Res Public Health 18, 7204 (2021).","journal-title":"Int J. Environ. Res Public Health"},{"key":"401_CR136","doi-asserted-by":"publisher","first-page":"147","DOI":"10.17796\/1053-4625-43.3.1","volume":"43","author":"A Garrocho-Rangel","year":"2019","unstructured":"Garrocho-Rangel, A., D\u00e1vila-Zapata, I., Mart\u00ednez-Rider, R., Ruiz-Rodr\u00edguez, S. & Pozos-Guill\u00e9n, A. Dentinogenesis Imperfecta Type II in Children: A Scoping Review. J. Clin. Pediatr. Dent. 43, 147\u2013154 (2019).","journal-title":"J. Clin. Pediatr. Dent."},{"key":"401_CR137","first-page":"19","volume":"40","author":"M Groten","year":"2009","unstructured":"Groten, M. Complex all-ceramic rehabilitation of a young patient with a severely compromised dentition: a case report. Quintessence Int. 40, 19\u201327 (2009).","journal-title":"Quintessence Int."},{"key":"401_CR138","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1016\/j.ajodo.2008.12.023","volume":"138","author":"WJ Roh","year":"2010","unstructured":"Roh, W. J., Kang, S. G. & Kim, S. J. Multidisciplinary approach for a patient with dentinogenesis imperfecta and anterior trauma. Am. J. Orthod. Dentofac. Orthop. 138, 352\u2013360 (2010).","journal-title":"Am. J. Orthod. Dentofac. Orthop."},{"key":"401_CR139","doi-asserted-by":"publisher","DOI":"10.1186\/s12903-020-01199-z","volume":"20","author":"XX Liu","year":"2020","unstructured":"Liu, X. X. et al. Pathogenesis, diagnosis and management of dentin hypersensitivity: an evidence-based overview for dental practitioners. BMC Oral. Health 20, 220 (2020).","journal-title":"BMC Oral. Health"},{"key":"401_CR140","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1111\/jopr.12736","volume":"27","author":"S Strauch","year":"2018","unstructured":"Strauch, S. & Hahnel, S. Restorative treatment in patients with Amelogenesis Imperfecta: A review. J. Prosthodont 27, 618\u2013623 (2018).","journal-title":"J. Prosthodont"},{"key":"401_CR141","doi-asserted-by":"publisher","first-page":"e36882","DOI":"10.1097\/MD.0000000000036882","volume":"103","author":"Y Zhang","year":"2024","unstructured":"Zhang, Y. et al. A novel approach to full-mouth rehabilitation of dentinogenesis imperfecta type II: Case series with review of literature. Medicine 103, e36882 (2024).","journal-title":"Medicine"},{"key":"401_CR142","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.prosdent.2018.10.028","volume":"122","author":"F Fan","year":"2019","unstructured":"Fan, F., Li, N., Huang, S. & Ma, J. A multidisciplinary approach to the functional and esthetic rehabilitation of dentinogenesis imperfecta type II: A clinical report. J. Prosthet. Dent. 122, 95\u2013103 (2019).","journal-title":"J. Prosthet. Dent."},{"key":"401_CR143","doi-asserted-by":"publisher","first-page":"bcr2017223942","DOI":"10.1136\/bcr-2017-223942","volume":"2018","author":"A Alhilou","year":"2018","unstructured":"Alhilou, A., Beddis, H. P., Mighell, A. J. & Durey, K. Dentin dysplasia: diagnostic challenges. BMJ Case Rep. 2018, bcr2017223942 (2018).","journal-title":"BMJ Case Rep."},{"key":"401_CR144","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.jdent.2017.12.011","volume":"70","author":"A Klink","year":"2018","unstructured":"Klink, A., Groten, M. & Huettig, F. Complete rehabilitation of compromised full dentitions with adhesively bonded all-ceramic single-tooth restorations: Long-term outcome in patients with and without amelogenesis imperfecta. J. Dent. 70, 51\u201358 (2018).","journal-title":"J. Dent."},{"key":"401_CR145","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1007\/BF03262715","volume":"11","author":"NA Lygidakis","year":"2010","unstructured":"Lygidakis, N. A. Treatment modalities in children with teeth affected by molar-incisor enamel hypomineralisation (MIH): A systematic review. Eur. Arch. Paediatr. Dent. 11, 65\u201374 (2010).","journal-title":"Eur. Arch. Paediatr. Dent."},{"key":"401_CR146","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.jdsr.2022.06.002","volume":"58","author":"R Okawa","year":"2022","unstructured":"Okawa, R. & Nakano, K. Dental manifestation and management of hypophosphatasia. Jpn Dent. Sci. Rev. 58, 208\u2013216 (2022).","journal-title":"Jpn Dent. Sci. Rev."},{"key":"401_CR147","doi-asserted-by":"publisher","first-page":"620","DOI":"10.14219\/jada.archive.2005.0233","volume":"136","author":"KD Coffield","year":"2005","unstructured":"Coffield, K. D. et al. The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta. J. Am. Dent. Assoc. 136, 620\u2013630 (2005).","journal-title":"J. Am. Dent. Assoc."},{"key":"401_CR148","doi-asserted-by":"publisher","first-page":"205951312096758","DOI":"10.1177\/2059513120967584","volume":"6","author":"L Shepherd","year":"2020","unstructured":"Shepherd, L., Turner, A., Reynolds, D. P. & Thompson, A. R. Acceptance and commitment therapy for appearance anxiety: three case studies. Scars Burn Heal 6, 2059513120967584 (2020).","journal-title":"Scars Burn Heal"},{"key":"401_CR149","first-page":"427","volume":"36","author":"SG Hofmann","year":"2012","unstructured":"Hofmann, S. G., Asnaani, A., Vonk, I. J., Sawyer, A. T. & Fang, A. The efficacy of cognitive behavioral therapy: A review of meta-analyses. Clin. Psychol. Rev. 36, 427\u2013440 (2012).","journal-title":"Clin. Psychol. Rev."},{"key":"401_CR150","first-page":"50","volume":"8","author":"S Mastro","year":"2016","unstructured":"Mastro, S., Zimmer-Gembeck, M. J., Webb, H. J., Farrell, L. & Waters, A. Young adolescents\u2019 appearance anxiety and body dysmorphic symptoms: Social problems, self-perceptions and comorbidities. J. Obses. Compuls. Relat. Disord. 8, 50\u201355 (2016).","journal-title":"J. Obses. Compuls. Relat. Disord."},{"key":"401_CR151","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1007\/s00439-019-01997-8","volume":"138","author":"MK Hyt\u00f6nen","year":"2019","unstructured":"Hyt\u00f6nen, M. K., Arumilli, M., Sarkiala, E., Nieminen, P. & Lohi, H. Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum. Genet. 138, 525\u2013533 (2019).","journal-title":"Hum. Genet."},{"key":"401_CR152","doi-asserted-by":"publisher","first-page":"5317","DOI":"10.1093\/hmg\/ddu247","volume":"23","author":"JA Poulter","year":"2014","unstructured":"Poulter, J. A. et al. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum. Mol. Genet. 23, 5317\u20135324 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"401_CR153","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1177\/0022034519854973","volume":"98","author":"X Duan","year":"2019","unstructured":"Duan, X. et al. A Novel AMELX mutation, its phenotypic features, and skewed X inactivation. J. Dent. Res 98, 870\u2013878 (2019).","journal-title":"J. Dent. Res"},{"key":"401_CR154","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1093\/hmg\/11.9.1069","volume":"11","author":"CK M\u00e5rdh","year":"2002","unstructured":"M\u00e5rdh, C. K. et al. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum. Mol. Genet. 11, 1069\u20131074 (2002).","journal-title":"Hum. Mol. Genet."},{"key":"401_CR155","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1111\/odi.13877","volume":"28","author":"S Yu","year":"2022","unstructured":"Yu, S. et al. A novel ENAM mutation causes hypoplastic amelogenesis imperfecta. Oral. Dis. 28, 1610\u20131619 (2022).","journal-title":"Oral. Dis."},{"key":"401_CR156","doi-asserted-by":"publisher","first-page":"2189","DOI":"10.1093\/hmg\/ddt616","volume":"23","author":"JA Poulter","year":"2014","unstructured":"Poulter, J. A. et al. A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum. Mol. Genet. 23, 2189\u20132197 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"401_CR157","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1038\/ejhg.2016.136","volume":"25","author":"KB Gosty\u0144ska","year":"2016","unstructured":"Gosty\u0144ska, K. B. et al. Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency. Eur. J. Hum. Genet 25, 94\u201399 (2016).","journal-title":"Eur. J. Hum. Genet"},{"key":"401_CR158","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1177\/0022034513502054","volume":"92","author":"JW Kim","year":"2013","unstructured":"Kim, J. W. et al. LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. J. Dent. Res. 92, 899\u2013904 (2013).","journal-title":"J. Dent. Res."},{"key":"401_CR159","doi-asserted-by":"publisher","first-page":"1417","DOI":"10.1093\/hmg\/ddaa041","volume":"29","author":"CEL Smith","year":"2020","unstructured":"Smith, C. E. L. et al. A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Hum. Mol. Genet. 29, 1417\u20131425 (2020).","journal-title":"Hum. Mol. Genet."},{"key":"401_CR160","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1016\/j.ajhg.2016.08.020","volume":"99","author":"DA Parry","year":"2016","unstructured":"Parry, D. A. et al. Mutations in the pH-sensing G-protein-coupled receptor GPR68 cause Amelogenesis Imperfecta. Am. J. Hum. Genet. 99, 984\u2013990 (2016).","journal-title":"Am. J. Hum. Genet."},{"key":"401_CR161","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1111\/j.1600-0722.2006.00291.x","volume":"114","author":"JT Wright","year":"2006","unstructured":"Wright, J. T. et al. Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation. Eur. J. Oral. Sci. 114, 13\u201317 (2006).","journal-title":"Eur. J. Oral. Sci."},{"key":"401_CR162","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1136\/jmg.2004.024505","volume":"42","author":"JW Kim","year":"2005","unstructured":"Kim, J. W. et al. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J. Med. Genet. 42, 271\u2013275 (2005).","journal-title":"J. Med. Genet."},{"key":"401_CR163","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1016\/j.ajhg.2013.01.003","volume":"92","author":"DA Parry","year":"2013","unstructured":"Parry, D. A. et al. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium\/calcium exchanger, as a cause of amelogenesis imperfecta. Am. J. Hum. Genet. 92, 307\u2013312 (2013).","journal-title":"Am. J. Hum. Genet."},{"key":"401_CR164","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1016\/j.ajhg.2009.09.014","volume":"85","author":"W El-Sayed","year":"2009","unstructured":"El-Sayed, W. et al. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am. J. Hum. Genet. 85, 699\u2013705 (2009).","journal-title":"Am. J. Hum. Genet."},{"key":"401_CR165","doi-asserted-by":"publisher","first-page":"3578","DOI":"10.1093\/hmg\/ddw203","volume":"25","author":"CE Smith","year":"2016","unstructured":"Smith, C. E. et al. Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum. Mol. Genet. 25, 3578\u20133587 (2016).","journal-title":"Hum. Mol. Genet."},{"key":"401_CR166","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1159\/000334210","volume":"196","author":"YL Song","year":"2012","unstructured":"Song, Y. L., Wang, C. N., Zhang, C. Z., Yang, K. & Bian, Z. Molecular characterization of amelogenesis imperfecta in Chinese patients. Cells Tissues Organs 196, 271\u2013279 (2012).","journal-title":"Cells Tissues Organs"},{"key":"401_CR167","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1111\/cge.13487","volume":"95","author":"JW Kim","year":"2019","unstructured":"Kim, J. W. et al. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin. Genet. 95, 375\u2013383 (2019).","journal-title":"Clin. Genet."},{"key":"401_CR168","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/S0003-9969(00)00130-8","volume":"46","author":"D Pallos","year":"2001","unstructured":"Pallos, D. et al. Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Arch. Oral. Biol. 46, 459\u2013470 (2001).","journal-title":"Arch. Oral. Biol."},{"key":"401_CR169","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.gendis.2019.03.001","volume":"6","author":"T Budsamongkol","year":"2019","unstructured":"Budsamongkol, T. et al. A novel mutation in COL1A2 leads to osteogenesis imperfecta\/Ehlers-Danlos overlap syndrome with brachydactyly. Genes Dis. 6, 138\u2013146 (2019).","journal-title":"Genes Dis."},{"key":"401_CR170","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1002\/ajmg.a.30460","volume":"132a","author":"J Dong","year":"2005","unstructured":"Dong, J., Gu, T., Jeffords, L. & MacDougall, M. Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III. Am. J. Med. Genet. A 132a, 305\u2013309 (2005).","journal-title":"Am. J. Med. Genet. A"},{"key":"401_CR171","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1016\/j.ajhg.2011.11.002","volume":"89","author":"A Bloch-Zupan","year":"2011","unstructured":"Bloch-Zupan, A. et al. Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am. J. Hum. Genet. 89, 773\u2013781 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"401_CR172","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1002\/humu.23130","volume":"38","author":"F Xiong","year":"2017","unstructured":"Xiong, F. et al. Mutation in SSUH2 causes autosomal-dominant Dentin Dysplasia Type I. Hum. Mutat. 38, 95\u2013104 (2017).","journal-title":"Hum. Mutat."},{"key":"401_CR173","doi-asserted-by":"publisher","first-page":"624","DOI":"10.1136\/jmedgenet-2015-103619","volume":"53","author":"Q Yang","year":"2016","unstructured":"Yang, Q. et al. A splicing mutation in VPS4B causes dentin dysplasia I. J. Med. Genet. 53, 624\u2013633 (2016).","journal-title":"J. Med. Genet."}],"container-title":["International Journal of Oral Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41368-025-00401-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41368-025-00401-8","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41368-025-00401-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:01:53Z","timestamp":1768867313000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41368-025-00401-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,20]]},"references-count":173,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["401"],"URL":"https:\/\/doi.org\/10.1038\/s41368-025-00401-8","relation":{},"ISSN":["2049-3169"],"issn-type":[{"value":"2049-3169","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,20]]},"assertion":[{"value":"4 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 August 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The study was approved by the Ethics Committee of the School & Hospital of Stomatology, Wuhan University (No. WDKQ2025B09).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics statement"}}],"article-number":"12"}}