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Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections

Thoracic Aortic Aneurysms and Dissections (TAAD) are a major cause of death in the United States. The spectrum of TAAD ranges from genetic disorders, such as Marfan syndrome, to sporadic isolated disease of unknown cause. We hypothesized that genomic copy number variants (CNVs) contribute causally t...

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Detalles Bibliográficos
Autores principales: Prakash, Siddharth, Kuang, Shao-Qing, Regalado, Ellen, Guo, Dongchuan, Milewicz, Dianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836726/
https://www.ncbi.nlm.nih.gov/pubmed/27092555
http://dx.doi.org/10.1371/journal.pone.0153543