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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...
Autores principales: | Jimenez, Yanireth, Paulsen, Cesar, Turner, Eduardo, Iturra, Sebastian, Cuevas, Oscar, Lay-son, Guillermo, Repetto, Gabriela M., Rojas, Marcelo, Calderon, Juan F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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