{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T12:38:05Z","timestamp":1777811885738,"version":"3.51.4"},"reference-count":30,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T00:00:00Z","timestamp":1391126400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>Oligodontia is the developmental absence of more than 5 permanent teeth except for the third molar. Familial oligodontia can occur as an isolated form or as part of a genetic syndrome. Mutations in the MSX1, PAX9, AXIN2, EDA, and WNT10A genes have been identified in familial non-syndromic oligodontia. Ectodermal dysplasia is a group of syndromes involving abnormalities of the ectodermal structures and is comprised of more than 150 different forms. Mutations in the ectodysplasin-A ( EDA) gene have been associated with X-linked hypohidrotic ectodermal dysplasia, and partial disruption of the EDA signaling pathway has been shown to cause an isolated form of oligodontia. We identified 2 X-linked oligodontia families and performed mutational analysis of the EDA gene. The mutational analysis revealed 2 novel EDA mutations: c.866G&gt;T, p.Arg289Leu and c.1135T&gt;G, p.Phe379Val (reference sequence NM_001399.4). These mutations were perfectly segregated with oligodontia and curly hair within each family and were not found in the 150 control X-chromosomes with the same ethnic background and in the exome variant server. This study broadens the mutational spectrum of the EDA gene and the understanding of X-linked oligodontia with curly hair.<\/jats:p>","DOI":"10.1177\/0022034514522059","type":"journal-article","created":{"date-parts":[[2014,1,31]],"date-time":"2014-01-31T21:42:44Z","timestamp":1391204564000},"page":"371-375","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":18,"title":["Oligodontia and Curly Hair Occur with Ectodysplasin-A Mutations"],"prefix":"10.1177","volume":"93","author":[{"given":"K.E.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.J.","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.K.","family":"Hyun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.H.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.W.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"},{"name":"Department of Molecular Genetics & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, 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