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Article

Novel mutations in ATP6V0A4 are associated with atypical progressive sensorineural hearing loss in a Chinese patient with distal renal tubular acidosis.

International journal of pediatric otorhinolaryngology - 1 Jan 2012

Li Xiaohua, Chai Yongchuan, Tao Zheng, Li Lei, Huang Zhiwu, Li Yun, Wu Hao, Yang Tao

Abstract excerpt

Mutations in ATP6V0A4 lead to distal renal acidosis (MIM 602722) with a highly variable range of hearing phenotype. We identified two novel ATP6V0A4 mutations in a Chinese patient with distal renal tubular acidosis and late onset hearing loss, and presented the first direct evidence of progressive hearing loss associated with ATP6V0A4 mutations by sequential audiological assessments. A unique audiometric profile...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22093743
DOI: 10.1016/j.ijporl.2011.10.017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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