Article
The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron
16 Mar 2009
Abstract excerpt
Progressive symmetric erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking. We performed mutation analysis and microsatellite haplotyping in two independently referred patients with PSEK and three patients from a previously published family with EKV. All patients had the...
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