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Article

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Clinical genetics - 1 Jan 2005

Santos R L P, Wajid M, Pham T L, Hussan J, Ali G, Ahmad W, Leal S M

Abstract excerpt

The Pakistani population has become an important resource for research on autosomal recessive non-syndromic hearing impairment (ARNSHI) due to the availability of large extended and highly consanguineous pedigrees. Here is presented the first report on the prevalence of gap junction beta-2 (GJB2) variants in Pakistan. One hundred and ninety-six unrelated Pakistani families with ARNSHI were recruited for a study...

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Source

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Identifiers

PMID: 15617550
DOI: 10.1111/j.1399-0004.2005.00379.x
PMCID: PMC2909104

Genes

GJB2

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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