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Article

Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.

Clinical genetics - 1 May 2002

Oliveira C A, Maciel-Guerra A T, Sartorato E L

Abstract excerpt

Congenital deafness occurs in approximately 1 in 1000 live births. In developed countries about 60% of hearing loss is genetic. However, in Brazil most cases of hearing loss are due to environmental factors, such as congenital infections (mainly rubella), perinatal anoxia, kernicterus and meningitis. Recently, it has been demonstrated that the GJB2 gene is a major gene underlying congenital sensorial deafness....

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Source

Identifiers

PMID: 12081719
DOI: 10.1034/j.1399-0004.2002.610506.x

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients.PMID 12081719Read ↗

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

[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].Semantic proximity Read ↗

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness.Semantic proximity Read ↗

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Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.Semantic proximity Read ↗

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