A Genotype-First Approach to Exploring Mendelian Cardiovascular Traits with Clear External Manifestations

PURPOSE: The purpose of this study is to use a genotype-first approach to explore highly penetrant, autosomal dominant cardiovascular diseases with external features, the RASopathies and Marfan syndrome (MFS), using biobank data. METHODS: This study uses exome sequencing and corresponding phenotypic...

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Pubblicato in:Genet Med
Autori principali: Wenger, Brittany M., Patel, Nihir, Lui, Madeline, Moscati, Arden, Do, Ron, Stewart, Douglas R., Tartaglia, Marco, Muiño-Mosquera, Laura, De Backer, Julie, Kontorovich, Amy R., Gelb, Bruce D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7796917/
https://ncbi.nlm.nih.gov/pubmed/32989268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00973-2
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