{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T07:25:58Z","timestamp":1787297158386,"version":"build-2736575974"},"reference-count":90,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100020595","name":"National Science and Technology Council","doi-asserted-by":"publisher","award":["DE027675"],"award-info":[{"award-number":["DE027675"]}],"id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["DE028849"],"award-info":[{"award-number":["DE028849"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.jp","jada.ada.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of the American Dental Association"],"published-print":{"date-parts":[[2026,7]]},"DOI":"10.1016\/j.adaj.2026.03.031","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T13:30:08Z","timestamp":1783344608000},"page":"773-786.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Inherited dentin defects with comorbidities"],"prefix":"10.1016","volume":"157","author":[{"given":"Kuan Yu","family":"Chu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4970-321X","authenticated-orcid":false,"given":"Ravi","family":"Prakash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8378-5880","authenticated-orcid":false,"given":"Shih-Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7192-6105","authenticated-orcid":false,"given":"James P.","family":"Simmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5583-7535","authenticated-orcid":false,"given":"J. Timothy","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9294-0248","authenticated-orcid":false,"given":"Jan C.-C.","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.adaj.2026.03.031_bib1","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/0003-9969(86)90093-2","article-title":"Ultrastructural changes during the life cycle of human odontoblasts","volume":"31","author":"Couve","year":"1986","journal-title":"Arch Oral Biol"},{"issue":"6","key":"10.1016\/j.adaj.2026.03.031_bib2","first-page":"826","article-title":"Molecular mechanisms in dental hard tissue mineralization","volume":"1","author":"Limeback","year":"1991","journal-title":"Curr Opin Dent"},{"issue":"200","key":"10.1016\/j.adaj.2026.03.031_bib3","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1097\/00003086-198511000-00038","article-title":"Noncollagenous proteins influencing the local mechanisms of calcification","author":"Fisher","year":"1985","journal-title":"Clin Orthop Relat Res"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib4","first-page":"236","article-title":"Hereditary defects in enamel and dentin","volume":"7","author":"Witkop","year":"1957","journal-title":"Acta Genet Stat Med"},{"issue":"9\u201310","key":"10.1016\/j.adaj.2026.03.031_bib5","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1111\/j.1600-0714.1988.tb01332.x","article-title":"Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification","volume":"17","author":"Witkop","year":"1988","journal-title":"J Oral Pathol"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib6","first-page":"620","article-title":"The psychosocial impact of developmental dental defects in people with hereditary amelogenesis imperfecta","volume":"136","author":"Coffield","year":"2005","journal-title":"JADA"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib7","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/1096-8628(20000717)93:2<158::AID-AJMG14>3.0.CO;2-4","article-title":"Dental findings in the Schimke immuno-osseous dysplasia","volume":"93","author":"da Fonseca","year":"2000","journal-title":"Am J Med Genet"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib8","first-page":"201","article-title":"Hereditary diseases with tooth anomalies and their causal genes. Article in Japanese","volume":"73","author":"Kurisu","year":"1998","journal-title":"Kaibogaku Zasshi"},{"issue":"6","key":"10.1016\/j.adaj.2026.03.031_bib9","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1177\/00220345231154569","article-title":"Unequal impact of COL1A1 and COL1A2 variants on dentinogenesis imperfecta","volume":"102","author":"Yamaguti","year":"2023","journal-title":"J Dent Res"},{"issue":"11","key":"10.1016\/j.adaj.2026.03.031_bib10","doi-asserted-by":"crossref","first-page":"3038","DOI":"10.1093\/hmg\/ddv053","article-title":"Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta","volume":"24","author":"Huckert","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.adaj.2026.03.031_bib11","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.actbio.2025.10.009","article-title":"Physiology of dentinogenesis and pathophysiology of dentinogenesis imperfecta: how does it affect dentin structure and biomechanics?","volume":"207","author":"Riou","year":"2025","journal-title":"Acta Biomater"},{"issue":"10028","key":"10.1016\/j.adaj.2026.03.031_bib27","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib28","doi-asserted-by":"crossref","first-page":"R95","DOI":"10.1530\/EJE-20-0299","article-title":"Osteogenesis imperfecta: an update on clinical features and therapies","volume":"183","author":"Marom","year":"2020","journal-title":"Eur J Endocrinol"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib29","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence","year":"1979","journal-title":"J Med Genet"},{"issue":"9418","key":"10.1016\/j.adaj.2026.03.031_bib30","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet"},{"issue":"9","key":"10.1016\/j.adaj.2026.03.031_bib31","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/nrendo.2011.81","article-title":"New perspectives on osteogenesis imperfecta","volume":"7","author":"Forlino","year":"2011","journal-title":"Nat Rev Endocrinol"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib32","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1297\/cpe.2025-0009","article-title":"Osteogenesis imperfecta: pathogenesis, classification, and treatment","volume":"34","author":"Hasegawa","year":"2025","journal-title":"Clin Pediatr Endocrinol"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0176466","article-title":"Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta: a retrospective cohort study","volume":"12","author":"Andersson","year":"2017","journal-title":"PLoS One"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib33","doi-asserted-by":"crossref","first-page":"49","DOI":"10.3390\/dj9050049","article-title":"Dentinogenesis imperfecta and caries in osteogenesis imperfecta among Vietnamese children","volume":"9","author":"Nguyen","year":"2021","journal-title":"Dent J (Basel)"},{"key":"10.1016\/j.adaj.2026.03.031_bib90","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/0003-9969(73)90075-7","article-title":"A proposed classification for heritable human dentine defects with a description of a new entity","volume":"18","author":"Shields","year":"1973","journal-title":"Arch Oral Biol"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib13","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.oooo.2023.02.002","article-title":"Radiomorphometric indices and fractal dimension of the mandible in individuals with osteogenesis imperfecta: a matched cross-sectional study","volume":"136","author":"Prado","year":"2023","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"key":"10.1016\/j.adaj.2026.03.031_bib34","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/1750-1172-3-31","article-title":"Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia","volume":"3","author":"Barron","year":"2008","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.adaj.2026.03.031_bib35","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1002\/ajmg.a.36545","article-title":"Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment","volume":"164A","author":"Van Dijk","year":"2014","journal-title":"Am J Med Genet A"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib36","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s00223-024-01293-2","article-title":"Dental abnormalities in osteogenesis imperfecta: a systematic review","volume":"115","author":"Ventura","year":"2024","journal-title":"Calcif Tissue Int"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib37","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/ajmg.c.31548","article-title":"Ehlers-Danlos syndrome, classical type","volume":"175","author":"Bowen","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib38","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib39","doi-asserted-by":"crossref","first-page":"149","DOI":"10.3390\/biom11020149","article-title":"Prepubertal periodontitis in a patient with combined classical and periodontal Ehlers-Danlos syndrome","volume":"11","author":"Stock","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.adaj.2026.03.031_bib40","author":"Edens Hurst"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib14","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/ajmg.a.30299","article-title":"The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)","volume":"131","author":"Malfait","year":"2004","journal-title":"Am J Med Genet A"},{"issue":"7","key":"10.1016\/j.adaj.2026.03.031_bib15","doi-asserted-by":"crossref","DOI":"10.2340\/00015555-3428","article-title":"Dental manifestations of Ehlers-Danlos syndromes: a systematic review","volume":"100","author":"Kapferer-Seebacher","year":"2020","journal-title":"Acta Derm Venereol"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib41","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1038\/s41436-020-00985-y","article-title":"Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature","volume":"23","author":"Kapferer-Seebacher","year":"2021","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib42","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1016\/0030-4220(69)90246-1","article-title":"The Ehlers-Danlos syndrome: a case requiring oral surgery","volume":"28","author":"Recant","year":"1969","journal-title":"Oral Surg Oral Med Oral Pathol"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib43","doi-asserted-by":"crossref","DOI":"10.1177\/03000605241242582","article-title":"Temporomandibular disorders among Ehlers-Danlos syndromes: a narrative review","volume":"52","author":"Oelerich","year":"2024","journal-title":"J Int Med Res"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib44","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1600-0714.2004.00300.x","article-title":"Oral health in prevalent types of Ehlers-Danlos syndromes","volume":"34","author":"De Coster","year":"2005","journal-title":"J Oral Pathol Med"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib45","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1002\/ajmg.c.31941","article-title":"Oral manifestations of Ehlers-Danlos syndromes","volume":"187","author":"Lepperdinger","year":"2021","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.adaj.2026.03.031_bib46","doi-asserted-by":"crossref","first-page":"293","DOI":"10.3389\/fendo.2020.00293","article-title":"Hyperphosphatemic tumoral calcinosis: pathogenesis, clinical presentation, and challenges in management","volume":"11","author":"Boyce","year":"2020","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib48","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10470","article-title":"A cross-sectional cohort study of the effects of FGF23 deficiency and hyperphosphatemia on dental structures in hyperphosphatemic familial tumoral calcinosis","volume":"5","author":"Lee","year":"2021","journal-title":"JBMR Plus"},{"issue":"6","key":"10.1016\/j.adaj.2026.03.031_bib47","doi-asserted-by":"crossref","first-page":"e235","DOI":"10.1016\/j.oooo.2015.05.006","article-title":"Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)","volume":"120","author":"Vieira","year":"2015","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib49","doi-asserted-by":"crossref","DOI":"10.5041\/RMMJ.10445","article-title":"Bone involvement in hyperphosphatemic familial tumoral calcinosis: a new phenotypic presentation","volume":"12","author":"Freedman","year":"2021","journal-title":"Rambam Maimonides Med J"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib17","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1297\/cpe.2022-0071","article-title":"A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant","volume":"32","author":"Nishimura-Kinoshita","year":"2023","journal-title":"Clin Pediatr Endocrinol"},{"key":"10.1016\/j.adaj.2026.03.031_bib16","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1186\/s12863-014-0098-3","article-title":"Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation: case report and review of the literature","volume":"15","author":"Rafaelsen","year":"2014","journal-title":"BMC Genet"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib50","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1093\/hmg\/ddi034","article-title":"An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia","volume":"14","author":"Benet-Pag\u00e8s","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib51","first-page":"318","article-title":"A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis","volume":"7","author":"Ichikawa","year":"2007","journal-title":"J Musculoskelet Neuronal Interact"},{"issue":"6","key":"10.1016\/j.adaj.2026.03.031_bib52","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1002\/ajmg.a.36476","article-title":"Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms","volume":"164A","author":"Finer","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.adaj.2026.03.031_bib53","doi-asserted-by":"crossref","first-page":"569","DOI":"10.12659\/AJCR.892113","article-title":"Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features","volume":"15","author":"Favia","year":"2014","journal-title":"Am J Case Rep"},{"issue":"7","key":"10.1016\/j.adaj.2026.03.031_bib54","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician\u2019s guide to X-linked hypophosphatemia","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner Res"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib55","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/s00223-010-9373-0","article-title":"Phenotype presentation of hypophosphatemic rickets in adults","volume":"87","author":"Beck-Nielsen","year":"2010","journal-title":"Calcif Tissue Int"},{"issue":"11","key":"10.1016\/j.adaj.2026.03.031_bib56","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/ng1868","article-title":"DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis","volume":"38","author":"Lorenz-Depiereux","year":"2006","journal-title":"Nat Genet"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib18","first-page":"531","article-title":"Dental problems in hypophosphatemic rickets, a cross sectional study","volume":"22","author":"Rabbani","year":"2012","journal-title":"Iran J Pediatr"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib19","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1002\/sca.21141","article-title":"X-linked hypophosphatemic rickets: enamel abnormalities and oral clinical findings","volume":"36","author":"Cremonesi","year":"2014","journal-title":"Scanning"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib20","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1007\/s00784-015-1425-4","article-title":"Review of the dental implications of X-linked hypophosphataemic rickets (XLHR)","volume":"19","author":"Sabandal","year":"2015","journal-title":"Clin Oral Investig"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib57","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ijos.2012.69","article-title":"Dentin matrix protein 1 and phosphate homeostasis are critical for postnatal pulp, dentin and enamel formation","volume":"4","author":"Rangiani","year":"2012","journal-title":"Int J Oral Sci"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib58","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/s41405-023-00129-9","article-title":"Dental manifestations and treatment of hypophosphatemic rickets: a case report and review of literature","volume":"9","author":"Jin","year":"2023","journal-title":"BDJ Open"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib59","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1067\/moe.2000.107522","article-title":"Familial hypophosphatemic vitamin D-resistant rickets: dental findings and histologic study of teeth","volume":"90","author":"Murayama","year":"2000","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib60","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1210\/er.2013-1009","article-title":"The rachitic tooth","volume":"35","author":"Foster","year":"2014","journal-title":"Endocr Rev"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib61","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0056749","article-title":"MEPE-derived ASARM peptide inhibits odontogenic differentiation of dental pulp stem cells and impairs mineralization in tooth models of X-linked hypophosphatemia","volume":"8","author":"Salmon","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.adaj.2026.03.031_bib62","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2021.688309","article-title":"X-linked hypophosphatemic rickets: multisystemic disorder in children requiring multidisciplinary management","volume":"12","author":"Baroncelli","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"12","key":"10.1016\/j.adaj.2026.03.031_bib63","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1177\/154405910708601202","article-title":"Dentin matrix protein 1 (DMP1): new and important roles for biomineralization and phosphate homeostasis","volume":"86","author":"Qin","year":"2007","journal-title":"J Dent Res"},{"issue":"5","key":"10.1016\/j.adaj.2026.03.031_bib64","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1177\/154405910708600502","article-title":"Hereditary dentin defects","volume":"86","author":"Kim","year":"2007","journal-title":"J Dent Res"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib65","first-page":"144","article-title":"Dental manifestations in children affected by hypophosphatemic rickets: a systematic review and meta-analysis","volume":"12","author":"Allam","year":"2025","journal-title":"Children (Basel)"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib66","first-page":"329","article-title":"The care of the patient with X-linked hypophosphatemic rickets","volume":"25","author":"Capotosti","year":"2024","journal-title":"Eur J Paediatr Dent"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib67","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1067\/mpd.2003.119","article-title":"Dental abnormalities in patients with familial hypophosphatemic vitamin D-resistant rickets: prevention by early treatment with 1-hydroxyvitamin D","volume":"142","author":"Chaussain-Miller","year":"2003","journal-title":"J Pediatr"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib22","doi-asserted-by":"crossref","first-page":"114","DOI":"10.5582\/irdr.2017.01019","article-title":"Dent disease: same CLCN5 mutation but different phenotypes in two brothers in China","volume":"6","author":"Zhang","year":"2017","journal-title":"Intractable Rare Dis Res"},{"issue":"6810","key":"10.1016\/j.adaj.2026.03.031_bib68","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/35042597","article-title":"ClC-5 Cl-channel disruption impairs endocytosis in a mouse model for Dent\u2019s disease","volume":"408","author":"Piwon","year":"2000","journal-title":"Nature"},{"issue":"6564","key":"10.1016\/j.adaj.2026.03.031_bib69","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1038\/379445a0","article-title":"A common molecular basis for three inherited kidney stone diseases","volume":"379","author":"Lloyd","year":"1996","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib21","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3233\/PGE-2012-005","article-title":"Novel OCRL mutations in patients with Dent-2 disease","volume":"1","author":"B\u00f6ckenhauer","year":"2012","journal-title":"J Pediatr Genet"},{"issue":"205","key":"10.1016\/j.adaj.2026.03.031_bib70","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1136\/adc.39.205.240","article-title":"Hypercalcuric rickets associated with renal tubular damage","volume":"39","author":"Dent","year":"1964","journal-title":"Arch Dis Child"},{"issue":"8","key":"10.1016\/j.adaj.2026.03.031_bib71","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1093\/oxfordjournals.qjmed.a068957","article-title":"Dent\u2019s disease: a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance","volume":"87","author":"Wrong","year":"1994","journal-title":"QJM"},{"key":"10.1016\/j.adaj.2026.03.031_bib72","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1750-1172-5-28","article-title":"Dent\u2019s disease","volume":"5","author":"Devuyst","year":"2010","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib73","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1086\/427887","article-title":"Dent disease with mutations in OCRL1","volume":"76","author":"Hoopes","year":"2005","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.adaj.2026.03.031_bib74","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1016\/j.archoralbio.2008.03.009","article-title":"ClC chloride channels in tooth germ and odontoblast-like MDPC-23 cells","volume":"53","author":"Hou","year":"2008","journal-title":"Arch Oral Biol"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib75","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.pdj.2022.02.001","article-title":"Oculocerebrorenal syndrome of Lowe: oral findings","volume":"32","author":"Soares","year":"2022","journal-title":"Pediatr Dent J"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib76","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.ajodo.2009.12.039","article-title":"Orthodontic treatment of a patient with Lowe syndrome","volume":"140","author":"Ruellas","year":"2011","journal-title":"Am J Orthod Dentofacial Orthop"},{"issue":"7 suppl","key":"10.1016\/j.adaj.2026.03.031_bib24","doi-asserted-by":"crossref","first-page":"29S","DOI":"10.1177\/0022034512450299","article-title":"Dental abnormalities in Schimke immuno-osseous dysplasia","volume":"91","author":"Morimoto","year":"2012","journal-title":"J Dent Res"},{"issue":"12","key":"10.1016\/j.adaj.2026.03.031_bib77","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/j.archoralbio.2009.09.008","article-title":"ClC-5 regulates dentin development through TGF-beta1 pathway","volume":"54","author":"Duan","year":"2009","journal-title":"Arch Oral Biol"},{"key":"10.1016\/j.adaj.2026.03.031_bib78","doi-asserted-by":"crossref","DOI":"10.1155\/2018\/9610892","article-title":"Dental care for patients with end-stage renal disease and undergoing hemodialysis","volume":"2018","author":"Costantinides","year":"2018","journal-title":"Int J Dent"},{"issue":"1\u20132","key":"10.1016\/j.adaj.2026.03.031_bib79","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004310050001","article-title":"Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature","volume":"159","author":"Boerkoel","year":"2000","journal-title":"Eur J Pediatr"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib80","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/ng821","article-title":"Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia","volume":"30","author":"Boerkoel","year":"2002","journal-title":"Nat Genet"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib23","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1136\/jmg.2006.044313","article-title":"Schimke immuno-osseous dysplasia: a clinicopathological correlation","volume":"44","author":"Clewing","year":"2007","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib81","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1136\/jmg.2008.060095","article-title":"Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation","volume":"46","author":"Elizondo","year":"2009","journal-title":"J Med Genet"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib82","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.tripleo.2003.08.007","article-title":"Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta","volume":"97","author":"Nusier","year":"2004","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"issue":"3","key":"10.1016\/j.adaj.2026.03.031_bib83","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s40368-013-0099-3","article-title":"Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia","volume":"15","author":"Gendronneau","year":"2014","journal-title":"Eur Arch Paediatr Dent"},{"key":"10.1016\/j.adaj.2026.03.031_bib84","series-title":"GeneReviews","article-title":"Schimke immunoosseous dysplasia","author":"Lippner","year":"1993"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib85","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/s41439-023-00244-x","article-title":"Oculofaciocardiodental syndrome caused by a novel BCOR variant","volume":"10","author":"Yamashita","year":"2023","journal-title":"Hum Genome Var"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib26","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1186\/s12903-024-05005-y","article-title":"Dental abnormalities observed in the oculo-facio-cardio-dental (OFCD) syndrome present in two Czech families bearing novel de novo BCOR pathogenic variants","volume":"24","author":"Batkova","year":"2024","journal-title":"BMC Oral Health"},{"issue":"2","key":"10.1016\/j.adaj.2026.03.031_bib86","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.gene.2015.01.044","article-title":"Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion","volume":"559","author":"Di Stefano","year":"2015","journal-title":"Gene"},{"issue":"4","key":"10.1016\/j.adaj.2026.03.031_bib87","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/ng1321","article-title":"Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR","volume":"36","author":"Ng","year":"2004","journal-title":"Nat Genet"},{"issue":"8","key":"10.1016\/j.adaj.2026.03.031_bib88","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1038\/ncb1913","article-title":"BCOR regulates mesenchymal stem cell function by epigenetic mechanisms","volume":"11","author":"Fan","year":"2009","journal-title":"Nat Cell Biol"},{"issue":"1","key":"10.1016\/j.adaj.2026.03.031_bib25","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.job.2024.01.008","article-title":"Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1","volume":"66","author":"Machida","year":"2024","journal-title":"J Oral Biosci"},{"key":"10.1016\/j.adaj.2026.03.031_bib89","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2022.946282","article-title":"Molecular mechanism of hyperactive tooth root formation in oculo-facio-cardio-dental syndrome","volume":"13","author":"Min Soe","year":"2022","journal-title":"Front Physiol"}],"container-title":["The Journal of the American Dental Association"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002817726002606?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002817726002606?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T07:22:23Z","timestamp":1787296943000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002817726002606"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":90,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["S0002817726002606"],"URL":"https:\/\/doi.org\/10.1016\/j.adaj.2026.03.031","relation":{},"ISSN":["0002-8177"],"issn-type":[{"value":"0002-8177","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Inherited dentin defects with comorbidities","name":"articletitle","label":"Article Title"},{"value":"The Journal of the American Dental Association","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.adaj.2026.03.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 American Dental Association. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}