- 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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