Article
A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.
The Journal of investigative dermatology - 1 Aug 2004
van Steensel Maurice A M, Steijlen Peter M, Bladergroen Reno S, Hoefsloot Elisabeth H, van Ravenswaaij-Arts Connie M, van Geel Michel
Abstract excerpt
Mutations in GJB2 (connexin26) are associated with skin disorders and deafness. The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). Here, we describe a patient suffering from a Clouston-syndrome-like phenotype of thin hair, deafness, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense mutation in GJB2. The heterozygous mutation in codon 42, AAC>AAG,...
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