Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
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Abstract
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 ro...
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Jimenez Y, Paulsen C, Turner E, Iturra S, Cuevas O, Lay-Son G, Repetto GM, Rojas M, Calderon JF. Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome. Genes (Basel). 2022 Jun 8;13(6):1027. doi:10.3390/genes13061027
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