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Autosomal dominant palmoplantar keratoderma congenital alopecia
- ... junction protein, alpha-like Tests of GJA1 ... Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis ...
- ... Sayin T, Heper AO, Tekin M. Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br ... in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with ... lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum ...