Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

1999/09/01 by Anna Grifa, A. Grifa, Carsten A. Wagner +14 · 7 citations
Neuroscience · #Biology #Gene #Genetics #Hearing, Cochlea, Tinnitus, Genetics #Locus (genetics) #Neuroscience of respiration and sleep #Vestibular and auditory disorders

paper · doi:10.1038/12612

crossref issued 1999/09/01 · crossref published 1999/09/01 · crossref published-print 1999/09/01 · openalex publication_date 1999/09/01 · crossref created 2002/07/26 · crossref deposited 2021/12/01 · openalex created_date 2025/10/10 · crossref indexed 2026/04/10 · openalex updated_date 2026/07/29

Citations

• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
• Expression of the gap-junction connexins 26 and 30 in the rat cochlea

Cited by

• Mutations in GJB6 cause hidrotic ectodermal dysplasia
• A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment
• Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
• A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
• A Novel Connexin 30 Mutation in Clouston Syndrome
• Hearing Is Normal without Connexin30
• GJB6 [wikipedia]