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Article

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

International journal of pediatric otorhinolaryngology - 1 Aug 2015

Pang Xiuhong, Chai Yongchuan, Chen Penghui, He Longxia, Wang Xiaowen, Wu Hao, Yang Tao

Abstract excerpt

OBJECTIVES: Recessive mutations of SLC26A4 are the major cause of hearing impairment associated with enlarged vestibular aqueduct (EVA). In a significant percentage of non-syndromic EVA patients, however, only mono-allelic mutations of SLC26A4 can be identified. In this study, we aimed to evaluate whether presence of mono-allelic mutations of SLC26A4 in those patients was coincidental or etiologically associated...

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Source

Identifiers

PMID: 26100058
DOI: 10.1016/j.ijporl.2015.06.009

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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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