Article
Investigation of de novo variation in pediatric cardiomyopathy.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2020
Parrott Ashley, Khoury Philip R, Shikany Amy R, Lorts Angela, Villa Chet R, Miller Erin M
Abstract excerpt
Pediatric cardiomyopathies can be caused by variants in genes encoding the sarcomere and cytoskeleton in cardiomyocytes. Variants are typically inherited in an autosomal dominant manner with variable expressivity. De novo variants have been reported, however their overall frequency is largely unknown. We sought to determine the rate of de novo, pathogenic and likely pathogenic (P/LP) variants in children with a...
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