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Article

Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct.

International journal of pediatric otorhinolaryngology - 1 Nov 2016

Wang Mingming, Zhang Fengguo, Xu Lei, Xiao Yun, Li Jianfeng, Fan Zhaomin, Sun Qian, Bai Xiaohui, Wang Haibo

Abstract excerpt

OBJECTIVE: To identify the disease-related SLC26A4 mutants in a Chinese Han pedigree associated with Enlarged vestibular aqueduct (EVA). METHODS: EVA diagnosis was based on the family history, clinical examinations, systematically audiometric evaluations, high-resolution computed tomography (HRCT) of the temporal bone, and magnetic resonance imaging (MRI) of inner ear. Sanger sequencing and mutation analysis of...

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Identifiers

PMID: 27729126
DOI: 10.1016/j.ijporl.2016.09.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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