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Article

Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.

European journal of pediatrics - 4 Sept 2025

Guan Ruirui, Zhao Wan, Sun Jingwu, Sun Jiaqiang, Li Chunyan, Guo Xiaotao

Abstract excerpt

Enlarged vestibular aqueduct (EVA) is one of the most common inner ear malformations (IEMs) leading to hearing loss in children. Although its genetic and clinical characteristics have been studied, its manifestations in completely deaf children in China, especially those with or without incomplete partition type II (IP-II), are not yet fully understood. We conducted a comprehensive analysis of 123 pediatric EVA...

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Source

Identifiers

PMID: 40906196
DOI: 10.1007/s00431-025-06445-6

Genes

SLC26A4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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