Article
A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
The British journal of dermatology - 1 Jun 2005
Morley S M, White M I, Rogers M, Wasserman D, Ratajczak P, McLean W H I, Richard G
Abstract excerpt
BACKGROUND: Erythrokeratodermia variabilis (EKV) is an autosomal dominant or recessive genodermatosis characterized by the coexistence of randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. The disorder has been mapped to chromosome 1p35.1 but is genetically heterogeneous. EKV may be caused by pathogenic mutations in one of two neighbouring connexin genes, GJB3 and GJB4, encoding...
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