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Article

[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Aug 2024

Wang Yueying, Liang Yue, Huang Bixue, Cen Xiaoqing, Huang Lusha, Chen Kaitian

Abstract excerpt

Objective:This study aims to identify the genetic etiology underlying late-onset hearing loss in two unrelated Chinese families. Methods:Detailed clinical data of recruited participants of two families were collected and analyzed using next-generation sequencing, combined with Sanger sequencing and bioinformatics tools. Results:Patients in both families manifested as down-sloping audiograms, mainly with severe...

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Identifiers

PMID: 39118504
DOI: 10.13201/j.issn.2096-7993.2024.08.002
PMCID: PMC11612751

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