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Article

[Splicing mutations of GSDME cause late-onset non-syndromic hearing loss].

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

Li Danyang, Wang Hongyang, Wang Qiuju

Abstract excerpt

Objective:To dentify the genetic and audiological characteristics of families affected by late-onset hearing loss due to GSDMEgene mutations, aiming to explore clinical characteristics and pathogenic mechanisms for providing genetic counseling and intervention guidance. Methods:Six families with late-onset hearing loss from the Chinese Deafness Genome Project were included. Audiological tests, including pure-tone...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38297846
DOI: 10.13201/j.issn.2096-7993.2024.01.005
PMCID: PMC11116152

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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