TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

A predisposition for thoracic aortic aneurysms leading to acute aortic dissections can be inherited in families in an autosomal dominant manner. Genome-wide linkage analysis of two large unrelated families with thoracic aortic disease, followed by whole exome sequencing of affected relatives, identi...

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Detalles Bibliográficos
Autores principales: Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033668/
https://www.ncbi.nlm.nih.gov/pubmed/22772371
http://dx.doi.org/10.1038/ng.2348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033668/
https://www.ncbi.nlm.nih.gov/pubmed/22772371
http://dx.doi.org/10.1038/ng.2348

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