Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome

Abstract Background Pathogenic variants in the SLC26A4 gene, encoding for Cl−/HCO3 − and I− anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population, up to 75% of patients fail to ident...

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Bibliographic Details
Published in:Molecular Medicine
Main Authors: Marek Sklenar, Silvia Borecka, Lukas Varga, Emanuele Bernardinelli, Juraj Stanik, Martina Skopkova, Miroslav Sabo, Diana Ugorova, Silvia Dossena, Daniela Gasperikova
Format: Article
Language:English
Published: BMC 2025-05-01
Subjects:
SLC26A4
CEVA haplotype
Enlarged vestibular aqueduct
Goiter
Hearing loss
Online Access:https://doi.org/10.1186/s10020-025-01262-x

Internet

https://doi.org/10.1186/s10020-025-01262-x

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