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Article

Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.

Genes - 10 Dec 2019

Noman Muhammad, Ishaq Rafaqat, Bukhari Shazia A, Ahmed Zubair M, Riazuddin Saima

Abstract excerpt

Hearing loss is a genetically heterogeneous disorder affecting approximately 360 million people worldwide and is among the most common sensorineural disorders. Here, we report a genetic analysis of seven large consanguineous families segregating prelingual sensorineural hearing loss. Whole-exome sequencing (WES) revealed seven different pathogenic variants segregating with hearing loss in these families, three...

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Identifiers

PMID: 31835641
DOI: 10.3390/genes10121031
PMCID: PMC6947215

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