title: An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.
authors: Martin
authors: M
authors: Glatz
authors: Maurice A M
authors: MA
authors: van Steensel
authors: Michel
authors: M
authors: van Geel
authors: Peter M
authors: PM
authors: Steijlen
authors: Peter
authors: P
authors: Wolf
mesh_terms: D000328:Adult; D017630:Connexins / Q000235:genetics*; D056266:Erythrokeratodermia Variabilis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D020125:Mutation, Missense
chemical_list: D017630:Connexins; C068044:GJB3 protein, human