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- W4382502053 abstract "Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare genetic disorder affecting ectodermal tissues mainly including hair, teeth, sweat glands, skin and nails. It exhibits X-linked (XLHED) as well as autosomal dominant or recessive modes of inheritance. In the first study conducted from Venezuela, we analyzed two XLHED cases exhibiting classical clinical symptoms and identified a novel hemizygous EDA deletion (c.111delG) in one and a novel missense likely pathogenic variant (p.Gly192Glu) in the other. The current study adds to the growing repertoire of disease-causing EDA mutations with important implications for genetic screening in the affected families." @default.
- W4382502053 created "2023-06-30" @default.
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- W4382502053 date "2023-06-28" @default.
- W4382502053 modified "2023-09-26" @default.
- W4382502053 title "Novel <i>EDA</i> mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela" @default.
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- W4382502053 doi "https://doi.org/10.1093/ced/llad218" @default.
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