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Article

Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.

International journal of pediatric otorhinolaryngology - 1 Sept 2021

Liang Pengfei, Chen Fengping, Wang Shujuan, Li Qiong, Li Wei, Wang Jian, Chen Jun, Zha Dingjun

Abstract excerpt

OBJECTIVES: Hereditary non-syndromic hearing loss (NSHL) has a high genetic heterogeneity with about 152 genes identified as associated molecular causes. The present study aimed to detect the possible damaging variants of the deaf probands from six unrelated Chinese families. METHODS: After excluding the pathogenic/likely pathogenic variants in the most common genes, GJB2 and SLC26A4, 12 probands with prelingual...

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Identifiers

PMID: 34265623
DOI: 10.1016/j.ijporl.2021.110817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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