Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

Marfan Syndrome (MFS) is an autosomal dominant condition caused by variants in the fibrillin-1 (<i>FBN1</i>) 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 mai...

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Bibliographic Details
Main Authors: Yanireth Jimenez, Cesar Paulsen, Eduardo Turner, Sebastian Iturra, Oscar Cuevas, Guillermo Lay-son, Gabriela M. Repetto, Marcelo Rojas, Juan F. Calderon
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Genes
Subjects:
Marfan syndrome
aortic aneurysm
genetic modifiers
exome sequencing
Online Access:https://www.mdpi.com/2073-4425/13/6/1027

Internet

https://www.mdpi.com/2073-4425/13/6/1027

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