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Article

[Investigation of clinical features and detection of 79 known deafness genes in a large Chinese family with dominant non-syndromic hearing loss].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 1 Aug 2014

Lin Xiaojiang, Chen Dongye, Wu Hao, Yang Tao, Zhang Dan, Chai Yongchuan

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic characteristics of a large family with late-onset, progressive autosomal dominant non-syndromic hearing loss. METHODS: Collections of detail history hereditary features, physical and audiological examination were performed. After mutation screening of GJB2, SLC26A4, MTRNR1 (12SrRNA) genes by Sanger sequencing, the proband was investigated by targeted...

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Identifiers

PMID: 25351123

Genes

GJB2

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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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