Article
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
American journal of human genetics - 1 Nov 2000
Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet D F, Hohl D, Huber M
Abstract excerpt
Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families. We studied eight affected and three healthy subjects in an Israeli family, of Kurdish origin,...
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