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Article

Clinical Phenotypic Characterization of the SLC26A4 Mutation in Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct.

The Laryngoscope - 1 Feb 2025

Zhuang Boxiang, Du Haiqiao, Chen Chenyu, Li Menghua, Kang Shuoshuo, Wang Qian, Wang Shuwei, Guo Weiwei, Lin Chang, Li Jianan, Yang Shiming, Wang Rong

Abstract excerpt

OBJECTIVE: To summarize the Solute Carrier Family 26 Member 4 (SLC26A4) mutations and clinical phenotypic characteristics of patients with Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PS/NSEVA). DESIGN: A retrospective cohort study for the Chinese population was performed to analyze the hearing test results of 406 patients with PS/NSEVA who had a SLC26A4 mutation and the relationship between inner...

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Identifiers

PMID: 39575919
DOI: 10.1002/lary.31752

Genes

SLC26A4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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