Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.

doi:10.1007/s00405-018-5083-4

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Article

Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Oct 2018

Kecskeméti Nóra, Szönyi Magdolna, Gáborján Anita, Küstel Marianna, Milley György Máté, Süveges Anna, Illés Anett, Kékesi Anna, Tamás László, Molnár Mária Judit, Szirmai Ágnes, Gál Anikó

Abstract excerpt

PURPOSE: Pathogenic variants of the gap junction beta 2 (GJB2) gene are responsible for about 50% of hereditary non-syndromic sensorineural hearing loss (NSHL). In this study, we report mutation frequency and phenotype comparison of different GJB2 gene alterations in Hungarian NSHL patients. METHODS: The total coding region of the GJB2 gene was analyzed with Sanger or NGS sequencing for 239 patients with NSHL and...

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PMID: 30094485
DOI: 10.1007/s00405-018-5083-4

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GJB2

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

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