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Article

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.

PloS one - 1 Jan 2023

Vodnjov Nina, Toplišek Janez, Maver Aleš, Čuturilo Goran, Jaklič Helena, Teran Nataša, Višnjar Tanja, Škrjanec Pušenjak Maruša, Hodžić Alenka, Miljanović Olivera, Peterlin Borut, Writzl Karin

Abstract excerpt

Founder variants in sarcomere protein genes account for a significant proportion of disease-causing variants in patients with hypertrophic cardiomyopathy (HCM). However, information on founder variants in non-sarcomeric protein genes, such as FHOD3, which have only recently been associated with HCM, remains scarce. In this study, we conducted a retrospective analysis of exome sequencing data of 134 probands with...

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Identifiers

PMID: 38051749
DOI: 10.1371/journal.pone.0294969
PMCID: PMC10697513

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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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