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Article

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

BMC medical genetics - 18 Jul 2020

Zhou Yingjie, Tariq Muhammad, He Sijie, Abdullah Uzma, Zhang Jianguo, Baig Shahid Mahmood

Abstract excerpt

BACKGROUND: Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all potential disease-causing genes for hereditary hearing loss by whole exome sequencing (WES)....

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Identifiers

PMID: 32682410
DOI: 10.1186/s12881-020-01087-x
PMCID: PMC7368710

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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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