<i>ATP6V1B1</i> —A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis

This study aims to provide new insights in understanding the genetic association between sensorineural hearing loss with distal renal tubular acidosis (RTA) and to add ATP6V1B1 to the list of known genes causing "Pendred ear phenotype".

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Publication Details

Journal
The Laryngoscope
Published
2026-06-30
DOI
https://doi.org/10.1002/lary.70716
Primary Topic
Hearing, Cochlea, Tinnitus, Genetics
Type
article
Field-Weighted Citation Impact
0.00
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article

ATP6V1B1 —A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis

Sandeep Govindan Prasad, Felice D’Arco, Emma Clement, M. H. Lequin
The Laryngoscope
Hearing, Cochlea, Tinnitus, Genetics
article

ATP6V1B1 —A Novel Genetic Association Between Pendred Imaging Phenotype and Renal Tubular Acidosis

Sandeep Govindan Prasad, Felice D’Arco, Emma Clement, M. H. Lequin
article en

Abstract

This study aims to provide new insights in understanding the genetic association between sensorineural hearing loss with distal renal tubular acidosis (RTA) and to add ATP6V1B1 to the list of known genes causing "Pendred ear phenotype".

The Laryngoscope
Great Ormond Street Hospital (GB), Texas Children's Hospital (US), University College London (GB)
Good health and well-being
Openalex Percentile: Top 9%
Hearing, Cochlea, Tinnitus, Genetics
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