Article
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Human mutation - 1 Jul 2018
Ceyhan-Birsoy Ozge, Miatkowski Maya M, Hynes Elizabeth, Funke Birgit H, Mason-Suares Heather
Abstract excerpt
RASopathies include a group of syndromes caused by pathogenic germline variants in RAS-MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy-associated genes have been reported in individuals with apparently nonsyndromic cardiomyopathy, suggesting that subtle features may be overlooked. To determine the utility...
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