A novel missense mutation responsible for a unique erythrokeratodermia variabilis patient with skin lesions in a swirling pattern.
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DOI: 10.1093/ced/llaf510
Abstract: Erythrokeratodermia variabilis (EKV) is a rare, inherited skin disease characterized by migratory erythematous areas and fixed hyperkeratosis plaques, which is most commonly caused by mutations in the GJB3, GJB4 or GJA1 gene. This study reports… read more here.
Keywords: swirling pattern; erythrokeratodermia variabilis; novel missense; mutation ... See more keywords