Erythrokeratoderma variabilis caused by a recessive mutation in GJB3
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2010.03986.x/fullpdf
Reference22 articles.
1. Genetic heterogeneity in erythrokeratodermia variabilis. novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations;Richard;J Invest Dermatol,2003
2. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis;Richard;Nat Genet,1998
3. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein;Gottfried;Hum Mol Genet,2002
4. A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis;Terrinoni;J Invest Dermatol,2004
5. Genetic diseases of junctions;Lai-Cheong;J Invest Dermatol,2007
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