Novel compound heterozygous mutations in KLHL24-induced recessive inherited hypertrophic cardiomyopathy: a case report

Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiovascular disease, but the genetic etiology of nearly 50% of cases remains unclear. This case report describes two siblings in a non-consanguineous family who presented with HCM caused by novel compound heterozygous mutations in the KLHL2...

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Autori principali:	Wenjing Zhou, Xian Wang, Jiyun Yang, Yingnan Liao
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-05-01
Serie:	Frontiers in Cardiovascular Medicine
Soggetti:	hypertrophic cardiomyopathy dilated cardiomyopathy recessive inheritance Kelch-like family member 24 genetic diagnosis
Accesso online:	https://www.frontiersin.org/articles/10.3389/fcvm.2026.1771424/full
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