Article
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
American journal of human genetics - 1 Jul 2009
Bohring Axel, Stamm Thomas, Spaich Christiane, Haase Claudia, Spree Kerstin, Hehr Ute, Hoffmann Mandy, Ledig Susanne, Sel Saadettin, Wieacker Peter, Röpke Albrecht
Abstract excerpt
Odonto-onycho-dermal dysplasia (OODD), a rare autosomal-recessive inherited form of ectodermal dysplasia including severe oligodontia, nail dystrophy, palmoplantar hyperkeratosis, and hyperhidrosis, was recently shown to be caused by a homozygous nonsense WNT10A mutation in three consanguineous Lebanese families. Here, we report on 12 patients, from 11 unrelated families, with ectodermal dysplasia caused by five...
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