hidrotic ectodermal dysplasia

hidrotic ectodermal dysplasia
an autosomal dominant disorder caused by mutations in the GJB6 gene (locus: 13q12), which encodes connexin 30. It is characterized by hypotrichosis; dystrophic, hypoplastic, or absent nails; hyperpigmentation of the skin over joints; hyperkeratosis of the palms and soles; normal dentition; and normal sweat gland function. Called also Clouston syndrome.

Medical dictionary. 2011.

См. также в других словарях:

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