Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection with Intracranial and Other Arterial Aneurysms

RATIONALE: Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) can be inherited in families in an autosomal dominant manner. As part of the spectrum of clinical heterogeneity of familial TAAD, we recently described families with multiple members that had TAAD and intracranial aneury...

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Main Authors: Regalado, Ellen S., Guo, Dong-chuan, Villamizar, Carlos, Avidan, Nili, Gilchrist, Dawna, McGillivray, Barbara, Clarke, Lorne, Bernier, Francois, Santos-Cortez, Regie L., Leal, Suzanne M., Bertoli-Avella, Aida M., Shendure, Jay, Rieder, Mark J., Nickerson, Deborah A, Milewicz, Dianna M.
Format: Artigo
Language:Inglês
Published: 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4115811/
https://ncbi.nlm.nih.gov/pubmed/21778426
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCRESAHA.111.248161
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