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Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.<\/jats:p>","DOI":"10.1177\/0022034508328627","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T22:26:21Z","timestamp":1236291981000},"page":"126-131","source":"Crossref","is-referenced-by-count":78,"title":["<i>EDA<\/i>\n                    Gene Mutations Underlie Non-syndromic Oligodontia"],"prefix":"10.1177","volume":"88","author":[{"given":"S.","family":"Song","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Peking University Health Science Center, Beijing, China;"},{"name":"Department of Prosthodontics, Peking University School and Hospital of Stomatology, 22 Zhongguancun Nandajie, Haidian District, Beijing, 100081, China;"},{"name":"College of Life Sciences, Peking University, Beijing, China;"},{"name":"Peking University Center of Medical Genetics, Peking University Health Science Center, Beijing 100083, China; and"},{"name":"New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Peking University Health Science Center, Beijing, China;"},{"name":"Department of Prosthodontics, Peking University School and Hospital of Stomatology, 22 Zhongguancun Nandajie, Haidian District, Beijing, 100081, China;"},{"name":"College of Life Sciences, Peking University, Beijing, China;"},{"name":"Peking University Center of Medical Genetics, Peking University Health Science Center, Beijing 100083, China; 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