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 (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 mortalit...

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Detalles Bibliográficos
Autores principales: Jimenez, Yanireth, Paulsen, Cesar, Turner, Eduardo, Iturra, Sebastian, Cuevas, Oscar, Lay-son, Guillermo, Repetto, Gabriela M., Rojas, Marcelo, Calderon, Juan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223058/
https://www.ncbi.nlm.nih.gov/pubmed/35741789
http://dx.doi.org/10.3390/genes13061027

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9223058/
https://www.ncbi.nlm.nih.gov/pubmed/35741789
http://dx.doi.org/10.3390/genes13061027

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