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Article

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

Genes - 21 Oct 2020

Buonfiglio Paula, Bruque Carlos D, Luce Leonela, Giliberto Florencia, Lotersztein Vanesa, Menazzi Sebastián, Paoli Bibiana, Elgoyhen Ana Belén, Dalamón Viviana

Abstract excerpt

Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Argentinean non-syndromic hearing-impaired individuals. A total of 48 different sequence variants were detected in...

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Identifiers

PMID: 33096615
DOI: 10.3390/genes11101233
PMCID: PMC7589744

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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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