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Article

Reevaluation of Enlarged Vestibular Aqueduct.

JAMA otolaryngology-- head & neck surgery - 1 Nov 2025

Huang Shasha, Gao Xue, Jiang Yi, Guo Chang, Li Xiaoge, Wang Guojian, Han Mingyu, Zhang Xin, Yang Suyan, Wang Qiuquan, Zhao Chaoyue, Yang Jinyuan, Kang Dongyang, Dai Pu, Yuan Yongyi

Abstract excerpt

Importance: Enlarged vestibular aqueduct (EVA), the most prevalent inner ear malformation causing hearing loss (HL) in various populations, is predominantly genetically mediated. Despite advancements in genetic diagnostics, the comprehensive phenotypic and genotypic spectrum of EVA remains insufficiently characterized. Objectives: To characterize the natural history, clinical outcomes, phenotype, and genotype of...

Read the complete abstract on PubMed

Topics

Humans
Vestibular Aqueduct
Female
Male
Child
Adult
Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adolescent

Retrospective Studies

Infant

Middle Aged

Phenotype

Young Adult

Hearing Loss, Sensorineural

Longitudinal Studies

Sulfate Transporters

Genotype

Source

Open in PubMed Open full text

Identifiers

PMID: 41066100
DOI: 10.1001/jamaoto.2025.2866
PMCID: PMC12512032

Genes

FOXI1
SLC26A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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