Article
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
Circulation. Cardiovascular genetics - 1 Apr 2017
Fourey Dana, Care Melanie, Siminovitch Katherine A, Weissler-Snir Adaya, Hindieh Waseem, Chan Raymond H, Gollob Michael H, Rakowski Harry, Adler Arnon
Abstract excerpt
BACKGROUND: Available data suggests that double mutations in patients with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype. Most of this data, however, is based on noncontemporary variant classification. METHODS AND RESULTS: Clinical data of all hypertrophic cardiomyopathy patients with 2 rare genetic variants were retrospectively reviewed and compared with a group of...
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