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Article

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Brazilian journal of otorhinolaryngology - 1 Jan 2000

Felix Felippe, Ribeiro Marcia Gonçalves, Tomita Shiro, Zalis Mariano Gustavo

Abstract excerpt

INTRODUCTION: In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil. OBJECTIVE: This study...

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Source

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Identifiers

PMID: 29773520
DOI: 10.1016/j.bjorl.2017.10.013
PMCID: PMC9442831

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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