Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections

Marfan syndrome (MFS) due to mutations in FBN1 is a known cause of thoracic aortic aneurysms and acute aortic dissections (TAAD) associated with pleiotropic manifestations. Genetic predisposition to TAAD can also be inherited in families in the absence of syndromic features, termed familial TAAD (FT...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Regalado, Ellen S., Guo, Dong-chuan, Santos-Cortez, Regie Lyn P., Hostetler, Ellen, Bensend, Tracy A., Pannu, Hariyadarshi, Estrera, Anthony, Safi, Hazim, Mitchell, Anna L., Evans, James P., Leal, Suzanne M., Bamshad, Michael, Shendure, Jay, Nickerson, Deborah A., Milewicz, Dianna M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4873375/
https://ncbi.nlm.nih.gov/pubmed/26621581
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12702
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