Article
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
The Journal of investigative dermatology - 1 Apr 2003
Richard Gabriele, Brown Nkecha, Rouan Fatima, Van der Schroeff Jan-Gerrit, Bijlsma Emilia, Eichenfield Lawrence F, Sybert Virginia P, Greer Kenneth E, Hogan Peter, Campanelli Carmen, Compton John G, Bale Sherri J, DiGiovanna John J, Uitto Jouni
Abstract excerpt
Erythrokeratodermia variabilis is an autosomal dominant genodermatosis characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location. The disorder maps to a cluster of connexin genes on chromosome 1p34-p35.1 and, in a subset of families, results from mutations in the gene GJB3 encoding the gap junction protein connexin-31 (Cx31). A recent...
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