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Article

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Pediatric nephrology (Berlin, Germany) - 1 Nov 2009

Andreucci Elena, Bianchi Benedetta, Carboni Ilaria, Lavoratti Giancarlo, Mortilla Marzia, Fonda Claudio, Bigozzi Minna, Genuardi Maurizio, Giglio Sabrina, Pela Ivana

Abstract excerpt

A significant number of patients affected by autosomal recessive primary distal renal tubular acidosis (dRTA) manifest sensorineural hearing loss (SNHL). Mutations in ATP6V1B1 are associated with early onset SNHL, whereas ATP6V0A4 mutations have been described in dRTA and late-onset SNHL. Enlarge...

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Share to Vestibular Aqueduct
Share to Acidosis, Renal Tubular
Share to Ear, Inner

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

Share to Hearing Loss, Sensorineural

Share to Proton-Translocating ATPases

Share to Radiography

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 19639346
DOI: 10.1007/s00467-009-1261-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19639346-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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