Different Phenotypes in Monozygotic Twins, Carriers of the Same Pathogenic Variant for Hypertrophic Cardiomyopathy
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DOI: 10.3390/life12091346
Abstract: Hypertrophic cardiomyopathy (HCM) is a monogenic disease with autosomal dominant inheritance. Genotype–phenotype relationships are complex, with variable penetrance even within the same family. The involvement of other modulating genetic and environmental factors is unknown. We… read more here.
Keywords: twin; hypertrophic cardiomyopathy; different phenotypes; pathogenic variant ... See more keywords