Article
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.
Genes - 8 Jun 2022
Jimenez Yanireth, Paulsen Cesar, Turner Eduardo, Iturra Sebastian, Cuevas Oscar, Lay-Son Guillermo, Repetto Gabriela M, Rojas Marcelo, Calderon Juan F
Abstract excerpt
Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (FBN1) gene. Cardinal features of MFS include ectopia lentis (EL), musculoskeletal features and aortic root aneurysm and dissection. Although dissection of the ascending aorta is the main cause of mortality in MFS, the clinical course differs considerably in age of onset and severity, even among individuals who share...
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