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Article

A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss.

Balkan medical journal - 15 Mar 2018

Masterson John, Yıldırım Busegül, Gökkaya Ece, Tokgöz Yılmaz Suna, Tekin Mustafa

Abstract excerpt

BACKGROUND: Hearing loss is the most common sensory deficit with many genetic and environmental underpinnings. While causative DNA variants have been identified in over 100 genes, most deafness-causing variants are rare, apart from a few exceptions. A single SYNE4 variant co-segregating with hearing loss has recently been reported in two Middle-Eastern families. CASE REPORT: In this report we present two members...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28958982
DOI: 10.4274/balkanmedj.2017.0946
PMCID: PMC5863260

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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