{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T17:09:25Z","timestamp":1790096965304,"version":"4.0.1"},"reference-count":49,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,7,14]],"date-time":"2025-07-14T00:00:00Z","timestamp":1752451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002842","name":"Chiang Mai University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002842","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Dental Journal"],"published-print":{"date-parts":[[2025,10]]},"DOI":"10.1016\/j.identj.2025.100942","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T07:23:29Z","timestamp":1754378609000},"page":"100942","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Stuck Below: Failure of Tooth Eruption and Hereditary Enamel Defects"],"prefix":"10.1016","volume":"75","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0881","authenticated-orcid":false,"given":"Piranit Nik","family":"Kantaputra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thamon","family":"Sirikrai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6102-2620","authenticated-orcid":false,"given":"Jeremy","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.identj.2025.100942_bib0001","doi-asserted-by":"crossref","DOI":"10.1016\/j.identj.2025.04.002","article-title":"Heimler syndrome with tooth agenesis, abnormal enamel and dentin mineralization, root maldevelopment, and PEX1 mutation","volume":"75","author":"Kantaputra","year":"2025","journal-title":"Int Dent J"},{"key":"10.1016\/j.identj.2025.100942_bib0002","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.36187","article-title":"Enamel-renal-gingival syndrome and FAM20A mutations","volume":"164a","author":"Kantaputra","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.identj.2025.100942_bib0003","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1038\/jhg.2017.26","article-title":"Periodontal disease and FAM20A mutations","volume":"62","author":"Kantaputra","year":"2017","journal-title":"J Hum Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0004","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1002\/ajmg.a.36579","article-title":"Enamel-renal-gingival syndrome, hypodontia, and a novel FAM20A mutation","author":"Kantaputra","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.identj.2025.100942_bib0005","doi-asserted-by":"crossref","DOI":"10.1016\/j.identj.2025.04.002","article-title":"Heimler syndrome with tooth agenesis, abnormal enamel and dentin mineralization, root maldevelopment, and PEX1 mutation","volume":"75","author":"Kantaputra","year":"2025","journal-title":"Int Dent J"},{"key":"10.1016\/j.identj.2025.100942_bib0006","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.identj.2025.100942_bib0007","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/cge.14134","article-title":"Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome","volume":"102","author":"Kantaputra","year":"2022","journal-title":"Clin Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0008","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.adaj.2021.12.009","article-title":"Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4","volume":"153","author":"Kantaputra","year":"2022","journal-title":"J Am Dent Assoc"},{"key":"10.1016\/j.identj.2025.100942_bib0009","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/j.tripleo.2005.04.017","article-title":"Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity","volume":"100","author":"Islam","year":"2005","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.1016\/j.identj.2025.100942_bib0010","first-page":"e494","article-title":"Tricho-dento-osseous syndrome and precocious eruption","volume":"9","author":"Jain","year":"2017","journal-title":"J Clin Exp Dent"},{"key":"10.1016\/j.identj.2025.100942_bib0011","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/odi.12955","article-title":"Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome","volume":"25","author":"Whitehouse","year":"2019","journal-title":"Oral Dis"},{"key":"10.1016\/j.identj.2025.100942_bib0012","article-title":"\"Isolated\" amelogenesis imperfecta associated with DLX3 mutation: a clinical case","volume":"2020","author":"Bonnet","year":"2020","journal-title":"Case Rep Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0013","first-page":"56","article-title":"Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations","volume":"32","author":"Lindemeyer","year":"2010","journal-title":"Pediatr Dent"},{"key":"10.1016\/j.identj.2025.100942_bib0014","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1136\/jmg.40.12.900","article-title":"Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects","volume":"40","author":"Hart","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0015","doi-asserted-by":"crossref","DOI":"10.3390\/genes13071272","article-title":"An Intron c.103-3T>C variant of the AMELX Gene causes combined hypomineralized and hypoplastic type of amelogenesis imperfecta: case series and review of the literature","volume":"13","author":"Leban","year":"2022","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.identj.2025.100942_bib0016","article-title":"AMELX mutations and genotype-phenotype correlation in X-linked amelogenesis imperfecta","volume":"25","author":"Wang","year":"2024","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.identj.2025.100942_bib0017","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.jds.2023.09.020","article-title":"A novel ODAPH mutation causing amelogenesis imperfecta and its expression in human dental tissues","volume":"19","author":"Wang","year":"2024","journal-title":"J Dent Sci"},{"key":"10.1016\/j.identj.2025.100942_bib0018","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1177\/0022034520962731","article-title":"FAM83H and autosomal dominant hypocalcified amelogenesis imperfecta","volume":"100","author":"Wang","year":"2021","journal-title":"J Dent Res"},{"key":"10.1016\/j.identj.2025.100942_bib0019","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2012.07.020","article-title":"Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta","volume":"91","author":"Parry","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0020","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1111\/cge.13721","article-title":"New missense variants in RELT causing hypomineralised amelogenesis imperfecta","volume":"97","author":"Nikolopoulos","year":"2020","journal-title":"Clin Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0021","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.matbio.2014.06.005","article-title":"WDR72 models of structure and function: a stage-specific regulator of enamel mineralization","volume":"38","author":"Katsura","year":"2014","journal-title":"Matrix Biol"},{"key":"10.1016\/j.identj.2025.100942_bib0022","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1177\/0022034513475626","article-title":"Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing","volume":"92","author":"Wang","year":"2013","journal-title":"J Dent Res"},{"key":"10.1016\/j.identj.2025.100942_bib0023","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s00223-024-01227-y","article-title":"Etiological mechanisms and genetic\/biological modulation related to PTH1R in primary failure of tooth eruption","volume":"115","author":"Li","year":"2024","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.identj.2025.100942_bib0024","doi-asserted-by":"crossref","DOI":"10.1590\/1678-7757-2022-0028","article-title":"Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations","volume":"30","author":"Thaweesapphithak","year":"2022","journal-title":"J Appl Oral Sci"},{"key":"10.1016\/j.identj.2025.100942_bib0025","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/154405910808701102","article-title":"Tricho-rhino-phalangeal syndrome with supernumerary teeth","volume":"87","author":"Kantaputra","year":"2008","journal-title":"J Dent Res"},{"key":"10.1016\/j.identj.2025.100942_bib0026","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1111\/1346-8138.15360","article-title":"TRPS1 mutation associated with trichorhinophalangeal syndrome type 1 with 15 supernumerary teeth, hypoplastic mandibular condyles with slender condylar necks and unique hair morphology","volume":"47","author":"Nik Kantaputra","year":"2020","journal-title":"J Dermatol"},{"key":"10.1016\/j.identj.2025.100942_bib0027","doi-asserted-by":"crossref","DOI":"10.1016\/j.archoralbio.2020.104735","article-title":"Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation","volume":"116","author":"Kantaputra","year":"2020","journal-title":"Arch Oral Biol"},{"key":"10.1016\/j.identj.2025.100942_bib0028","doi-asserted-by":"crossref","DOI":"10.3390\/ijms25158189","article-title":"Rare germline variants in the adenomatous polyposis coli gene associated with dental and osseous anomalies","volume":"25","author":"B\u00fcki","year":"2024","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.identj.2025.100942_bib0029","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1002\/ajmg.a.35264","article-title":"Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7","author":"Kantaputra","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.identj.2025.100942_bib0030","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/j.ajhg.2013.03.023","article-title":"Mutations in ANTXR1 cause GAPO syndrome","volume":"92","author":"Str\u00e1neck\u00fd","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.identj.2025.100942_bib0031","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1016\/j.sdentj.2024.07.001","article-title":"Abnormal dental phenotypes in GAPO syndrome: a descriptive study with a new ANTXR1 variant & insights on teeth eruption","volume":"36","author":"El-Moataz Bellah Ahmed","year":"2024","journal-title":"Saudi Dent J"},{"key":"10.1016\/j.identj.2025.100942_bib0032","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1111\/j.1600-0714.1980.tb00377.x","article-title":"Tooth eruption: evidence for the central role of the dental follicle","volume":"9","author":"Cahill","year":"1980","journal-title":"J Oral Pathol"},{"key":"10.1016\/j.identj.2025.100942_bib0033","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/S0096-6347(41)90413-1","article-title":"Studies in tooth development: theories of eruption","volume":"27","author":"Massler","year":"1941","journal-title":"Am J Orthodont Oral Surg"},{"key":"10.1016\/j.identj.2025.100942_bib0034","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/0003-9969(84)90105-5","article-title":"Experimental study in the dog of the non-active role of the tooth in the eruptive process","volume":"29","author":"Marks","year":"1984","journal-title":"Arch Oral Biol"},{"key":"10.1016\/j.identj.2025.100942_bib0035","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/s41586-019-1105-7","article-title":"Developmental origin, functional maintenance and genetic rescue of osteoclasts","volume":"568","author":"Jacome-Galarza","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.identj.2025.100942_bib0036","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.tice.2016.05.007","article-title":"The parathyroid hormone-related protein is secreted during the osteogenic differentiation of human dental follicle cells and inhibits the alkaline phosphatase activity and the expression of DLX3","volume":"48","author":"Klingelhoffer","year":"2016","journal-title":"Tissue Cell"},{"key":"10.1016\/j.identj.2025.100942_bib0037","doi-asserted-by":"crossref","first-page":"149","DOI":"10.3109\/03008209509013718","article-title":"The basic and applied biology of tooth eruption","volume":"32","author":"Marks","year":"1995","journal-title":"Connect Tissue Res"},{"key":"10.1016\/j.identj.2025.100942_bib0038","doi-asserted-by":"crossref","DOI":"10.3892\/mmr.2024.13292","article-title":"Abnormal dental follicle cells: a crucial determinant in tooth eruption disorders (review)","volume":"30","author":"Chen","year":"2024","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.identj.2025.100942_bib0039","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1177\/154411130201300403","article-title":"Cellular, molecular, and genetic determinants of tooth eruption","volume":"13","author":"Wise","year":"2002","journal-title":"Crit Rev Oral Biol Med"},{"key":"10.1016\/j.identj.2025.100942_bib0040","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1073\/pnas.1810200115","article-title":"Autocrine regulation of mesenchymal progenitor cell fates orchestrates tooth eruption","volume":"116","author":"Takahashi","year":"2019","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.identj.2025.100942_bib0041","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s40510-021-00387-z","article-title":"Validating clinical characteristics of primary failure of eruption (PFE) associated with PTH1R variants","volume":"22","author":"Grippaudo","year":"2021","journal-title":"Progress Orthodont"},{"key":"10.1016\/j.identj.2025.100942_bib0042","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1177\/154405910808700509","article-title":"Mechanisms of tooth eruption and orthodontic tooth movement","volume":"87","author":"Wise","year":"2008","journal-title":"J Dent Res"},{"key":"10.1016\/j.identj.2025.100942_bib0043","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/(SICI)1097-0185(199606)245:2<374::AID-AR18>3.0.CO;2-M","article-title":"Tooth eruption: theories and facts","volume":"245","author":"Marks","year":"1996","journal-title":"Anat Rec"},{"key":"10.1016\/j.identj.2025.100942_bib0044","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/ijos.2016.14","article-title":"Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth","volume":"8","author":"Li","year":"2016","journal-title":"Int J Oral Sci"},{"key":"10.1016\/j.identj.2025.100942_bib0045","series-title":"Oral Anatomy, Histology and Embryology","author":"Berkovitz","year":"2017"},{"key":"10.1016\/j.identj.2025.100942_bib0046","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1177\/0022034519882692","article-title":"Mesenchymal progenitor regulation of tooth eruption: a view from PTHrP","volume":"99","author":"Nagata","year":"2020","journal-title":"J Dent Res"},{"key":"10.1016\/j.identj.2025.100942_bib0047","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0030-4220(92)90220-K","article-title":"Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia","volume":"74","author":"Peters","year":"1992","journal-title":"Oral Surg Oral Med Oral Pathol"},{"key":"10.1016\/j.identj.2025.100942_bib0048","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13005-018-0163-7","article-title":"Primary failure of eruption (PFE): a systematic review","volume":"14","author":"Hanisch","year":"2018","journal-title":"Head Face Med"},{"key":"10.1016\/j.identj.2025.100942_bib0049","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1111\/j.1601-6343.2009.01438.x","article-title":"Mechanism and control of tooth eruption: overview and clinical implications","volume":"12","author":"Proffit","year":"2009","journal-title":"Orthod Craniofac Res"}],"container-title":["International Dental Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0020653925002291?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0020653925002291?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T07:34:33Z","timestamp":1772782473000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0020653925002291"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["S0020653925002291"],"URL":"https:\/\/doi.org\/10.1016\/j.identj.2025.100942","relation":{},"ISSN":["0020-6539"],"issn-type":[{"value":"0020-6539","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Stuck Below: Failure of Tooth Eruption and Hereditary Enamel Defects","name":"articletitle","label":"Article Title"},{"value":"International Dental Journal","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.identj.2025.100942","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of FDI World Dental Federation.","name":"copyright","label":"Copyright"}],"article-number":"100942"}}