Associated Papers
Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.
Lipari M et al.
Polish Archives of Internal Medicine, 2020
First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy.
Janin A et al.
Gene, 2018
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
Fourey D et al.
Circulation. Cardiovascular Genetics, 2017
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?
van Rijsingen IA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2009
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