Article
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
Clinical and experimental dermatology - 1 Jun 2011
Fuchs-Telem D, Pessach Y, Mevorah B, Shirazi I, Sarig O, Sprecher E
Abstract excerpt
BACKGROUND: Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis. AIM: To identify the molecular basis of recessive EKV in a consanguineous family of Middle Eastern origin. METHODS: Direct...
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