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• W2029454350 abstract "Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. 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." @default.
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• W2029454350 date "2009-02-01" @default.
• W2029454350 modified "2023-09-29" @default.
• W2029454350 title "<i>EDA</i> Gene Mutations Underlie Non-syndromic Oligodontia" @default.
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• W2029454350 doi "https://doi.org/10.1177/0022034508328627" @default.
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