Pure hair-nail type ectodermal dysplasia | |
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Other names | Hair-nail ectodermal dysplasia |
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. [1] Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait. [2]
Pure hair-nail type ectodermal dysplasia | |
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Other names | Hair-nail ectodermal dysplasia |
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. [1] Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait. [2]