A Novel Connexin 30 Mutation in Clouston Syndrome

2002/03/01 by Frances J.D. Smith, W.H. Irwin McLean, Susan M. Morley · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Connexin #Connexins and lens biology #Gap junction #Gene #Genetics #Hearing, Cochlea, Tinnitus, Genetics #Ion Channels and Receptors #Medicine #Mutation

paper · pdf · doi:10.1046/j.0022-202x.2001.01689.x

crossref issued 2002/03/01 · crossref published 2002/03/01 · crossref published-print 2002/03/01 · openalex publication_date 2002/03/01 · crossref created 2003/03/12 · crossref deposited 2019/04/11 · openalex created_date 2025/10/10 · crossref indexed 2026/02/19 · openalex updated_date 2026/07/28

Citations

• Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
• Human Connexin 30 (GJB6), a Candidate Gene for Nonsyndromic Hearing Loss: Molecular Cloning, Tissue-Specific Expression, and Assignment to Chromosome 13q12
• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
• Mutations in GJB6 cause hidrotic ectodermal dysplasia
• The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

Cited by

• Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
• GJB6 [wikipedia]