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Article

A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.

Human molecular genetics - 19 Feb 2023

Li Yuan, Ning Guozhu, Kang Baoling, Zhu Jinwen, Wang Xiao-Yang, Wang Qiang, Cai Tao

Abstract excerpt

Hereditary hearing loss is a highly genetically heterogeneous disorder. More than 150 genes have been identified to link to human non-syndromic hearing impairment. To identify genetic mutations and underlying molecular mechanisms in affected individuals and families with congenital hearing loss, we recruited a cohort of 389 affected individuals in 354 families for whole-exome sequencing analysis. In this study,...

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Identifiers

PMID: 36130215
DOI: 10.1093/hmg/ddac229
PMCID: PMC10365843

Provenance

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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