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Results 1 - 3 of 3 for Autosomal recessive palmoplantar keratoderma congenital alopecia
  1. GJA1 gene 
    ... the GJA1 gene has been found to cause palmoplantar keratoderma and congenital alopecia 1, a condition characterized by skin problems, an ... and nails results in the features characteristic of palmoplantar keratoderma and congenital alopecia 1.Other mutations in one copy of the ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  2. Nonbullous congenital ichthyosiform erythroderma 
    ... NBIE NCIE Nonbullous ichthyosiform erythroderma Genetic Testing Registry: Autosomal recessive congenital ichthyosis 10 Genetic Testing Registry: Autosomal recessive congenital ...
    https://medlineplus.gov/...ous-congenital-ichthyosiform-erythroderma - Genetics
  3. JUP gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/jup - Genetics