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Article

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

The Journal of laryngology and otology - 1 Feb 2008

Joshua B, Kaplan D M, Raveh E, Lotan D, Anikster Y

Abstract excerpt

OBJECTIVE: Primary distal renal tubular acidosis with sensorineural hearing loss is a rare autosomal recessive disease, usually caused by mutations in the ATP6V1B1 gene. The aim of this study was to characterise the phenotype of this disease, with emphasis on the auditory findings, in a cohort of Israeli children. STUDY DESIGN: Prospective study of five children, from three unrelated families, with distal renal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17669226
DOI: 10.1017/S0022215107009747

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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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