Condition: Mutilating keratoderma
rs104894403 in
GJB2 gene and
Mutilating keratoderma
PMID 18688874 2009 New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
PMID 10369869 1999 A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
PMID 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
PMID 15954104 2005 Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
PMID 12172392 2002 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
PMID 10713883 2000 High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
PMID 9328482 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
PMID 18294064 2007 Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.
PMID 9336442 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
PMID 9285800 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
PMID 10376574 1999 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.