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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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Pubblicato in:PLoS One
Autori principali: Prakash, Siddharth, Kuang, Shao-Qing, Regalado, Ellen, Guo, Dongchuan, Milewicz, Dianna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4836726/
https://ncbi.nlm.nih.gov/pubmed/27092555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0153543
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