Condition: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1


rs864309644 in GJA1 gene and PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 PMID 25168385 2015 By performing whole-exome sequencing in a family with KHLS, we identified a heterozygous mutation (c.23G>T [p.Gly8Val]) in GJA1, which cosegregated with the phenotype in the family.