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Article

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Journal of cellular and molecular medicine - 1 Apr 2024

Shadab Madiha, Abbasi Ansar Ahmed, Ejaz Ahsan, Ben-Mahmoud Afif, Gupta Vijay, Kim Hyung-Goo, Vona Barbara

Abstract excerpt

Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages. Pakistan has a rich history of autosomal recessive gene discovery related to non-syndromic hearing loss. Since the...

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Identifiers

PMID: 38534090
DOI: 10.1111/jcmm.18119
PMCID: PMC10967143

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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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