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Article

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.

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 Jul 2024

Frohne Alexandra, Vrabel Sybille, Laccone Franco, Neesen Juergen, Roesch Sebastian, Dossena Silvia, Schoefer Christian, Frei Klemens, Parzefall Thomas

Abstract excerpt

PURPOSE: Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL. This work aimed to characterize the mutational spectrum of AD HL in Austria. METHODS: In an ongoing prospective study, 27...

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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: 38400873
DOI: 10.1007/s00405-024-08492-5
PMCID: PMC11211180

Provenance

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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