The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.

Source:http://linkedlifedata.com/resource/pubmed/id/19291775

Am. J. Med. Genet. A 2009 Feb 15 149A 4 657-61

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19291775