Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation
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Erythrokeratoderma Variabilis (EKV) is a rare genodermatosis, characterized by variable erythematous and hyperkeratotic skin lesions. It is most often transmitted in autosomal dominant manner (AD). Casual mutations were found in the GJB3 and GJB4 genes encodin... ...