GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review

2002/07/01 by Aileen Kenneson, Kim Van Naarden Braun, Coleen Boyle · 320 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Allele #Audiology #Biology #Connexin #Connexins and lens biology #Gene #Genetics #Genotype #Hearing loss #Hearing, Cochlea, Tinnitus, Genetics #Locus (genetics) #Medicine #Penetrance #Phenotype #Sensorineural hearing loss #Vestibular and auditory disorders

paper · pdf · doi:10.1097/00125817-200207000-00004

published in Genetics in Medicine 4(4), 258-274 (Elsevier BV)

crossref issued 2002/07/01 · crossref published 2002/07/01 · crossref published-print 2002/07/01 · openalex publication_date 2002/07/01 · crossref created 2003/11/17 · openalex created_date 2025/10/10 · crossref deposited 2025/10/22 · openalex updated_date 2026/07/28 · crossref indexed 2026/08/07

Citations

• Attitudes of Deaf Adults toward Genetic Testing for Hereditary Deafness
• High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
• Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Cited by

• Compound heterozygosity for dominant and recessive GJB2 mutations: Effect on phenotype and review of the literature
• Gap Junctions and Cochlear Homeostasis
• Importance of connectivity in the Danube River catchment
• Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss
• GJB2 [wikipedia]