Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections

Thoracic aortic aneurysms and dissections (TAAD) cause significant morbidity and mortality, but the genetic origins of TAAD remain largely unknown. In a genome-wide analysis of 418 sporadic TAAD cases, we identified 47 copy number variant (CNV) regions that were enriched in or unique to TAAD patient...

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Hauptverfasser: Prakash, Siddharth K., LeMaire, Scott A., Guo, Dong-Chuan, Russell, Ludivine, Regalado, Ellen S., Golabbakhsh, Hossein, Johnson, Ralph J., Safi, Hazim J., Estrera, Anthony L., Coselli, Joseph S., Bray, Molly S., Leal, Suzanne M., Milewicz, Dianna M., Belmont, John W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2997376/
https://ncbi.nlm.nih.gov/pubmed/21092924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.09.015
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