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Article

Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct.

International journal of pediatric otorhinolaryngology - 1 Nov 2020

Kınoğlu Kubilay, Orhan Kadir Serkan, Kara Hakan, Öztürk Oğuz, Polat Beldan, Aydoğan Hülya, Çelik Mehmet, Ceviz Ayşe Begüm, Güldiken Yahya

Abstract excerpt

OBJECTIVES: Mutations of the SLC26A4 gene causing enlarged vestibular aqueduct (EVA) syndrome have not yet been fully elucidated. The study aimed to investigate SLC26A4 mutations in patients with EVA syndrome in the Turkish population. Identifying these mutations may play an essential role in determining the prognosis, follow-up, and management options of these patients. METHODS: Whole exome sequencing and/or...

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Identifiers

PMID: 33152970
DOI: 10.1016/j.ijporl.2020.110379

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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