Article
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy.
International journal of cardiology - 15 Sept 2024
Harikrishnan Sivadasanpillai, Koshy Linda, Ganapathi Sanjay, Jeemon Panniyammakal, Ramya Das N K, Urulangodi Madhusoodanan, Madhuma M, Vysakh Y, Subran Anjana, Lakshmikanth L R
Abstract excerpt
BACKGROUND: Catalogues of pathogenic genetic mutations in hypertrophic cardiomyopathy (HCM) are disproportionately small when compared to that of the size of the population with South Asian ancestry and their collective increased risk of heart disease. METHODS: We conducted clinical exome sequencing of 200 HCM patients to identified cardiomyopathy-associated genetic mutations. The clinical and echocardiographic...
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