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Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.

Genes & genomics - 1 Feb 2023

Choi Hee Ji, Kanwal Sumaira, Hameed Rashid, Tamanna Nasrin, Perveen Shazia, Mahreen Hina, Son Wonseok, Lee Kyung Suk, Chung Ki Wha

Abstract excerpt

BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. DFNB genes are very diverse in their types and functions, making molecular diagnosis difficult. DFNB is particularly frequent in Pakistan, which may be partly due to consanguinity. OBJECTIVE: This study was performed to determine the genetic causes...

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PMID: 36472766
DOI: 10.1007/s13258-022-01349-3

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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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