A novel missense mutation responsible for a unique erythrokeratodermia variabilis patient with skin lesions in a swirling pattern
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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 a 5-month-old m... ...
