Article
Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
Clinical and experimental dermatology - 1 Jun 2011
Wei S, Zhou Y, Zhang T D, Huang Z M, Zhang X B, Zhu H L, Liang B H, Lin L, Deng L
Abstract excerpt
BACKGROUND: Progressive symmetrical erythrokeratodermia (PSEK) is a rare inherited cornification disorder characterized by symmetrical erythematous hyperkeratotic plaques. The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4. A mutation in the loricrin gene (LOR)...
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