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Article

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Croatian medical journal - 13 Jun 2024

Sansović Ivona, Meašić Ana-Maria, Bobinec Adriana, Morožin Pohovski Leona, Odak Ljubica, Vulin Katarina, Lozić Bernarda, Kero Mijana, Huljev Frković Sanda, Pušeljić Silvija

Abstract excerpt

AIM: To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods. METHODS: The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children's Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were...

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PMID: 38868966
PMCID: PMC11157262

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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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