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Article

Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Lancet (London, England) - 7 Feb 1998

Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P

Abstract excerpt

BACKGROUND: Hearing impairment affects one infant in 1000 and 4% of people aged younger than 45 years. Congenital deafness is inherited or apparently sporadic. We have shown previously that DFNB1 on chromosome 13 is a major locus for recessive deafness in about 80% of Mediterranean families and t...

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Source

Identifiers

PMID: 9482292
DOI: 10.1016/S0140-6736(97)11124-2

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9482292-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Connexin-26 mutations in sporadic and inherited sensorineural deafness.PMID 9482292Read ↗

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.Semantic proximity Read ↗

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A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.Semantic proximity Read ↗

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.Semantic proximity Read ↗

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.Semantic proximity Read ↗

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GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

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