ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm

Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)(1–3) that frequently presents with ascending aortic aneurysm (AscAA)(4). BAV/AscAA shows autosomal dominant inheritance with incomplete penetrance and male predominance. Causative gene mutations are known fo...

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Publicado en:Nat Genet
Main Authors: Gould, Russell A, Aziz, Hamza, Woods, Courtney E, Seman-Senderos, Manuel Alejandro, Sparks, Elizabeth, Preuss, Christoph, Wünnemann, Florian, Bedja, Djahida, Moats, Cassandra R, McClymont, Sarah A, Rose, Rebecca, Sobeira, Nara, Ling, Hua, MacCarrick, Gretchen, Anand Kumar, Ajay, Luyckx, Ilse, Cannaerts, Elyssa, Verstraeten, Aline, Björk, Hanna M, Lehsau, Ann-Cathrin, Jaskula-Ranga, Vinod, Lauridsen, Henrik, Shah, Asad A, Bennett, Christopher L, Ellinor, Patrick T, Lin, Honghuang, Isselbacher, Eric M, Cardenas, Christian Lacks Lino, Butcher, Jonathan T, Hughes, G. Chad, Lindsay, Mark E., Mertens, Luc, Franco-Cereceda, Anders, Verhagen, Judith MA, Wessels, Marja, Mohamed, Salah A, Per, Eriksson, Mital, Seema, Laer, Lut Van, Loeys, Bart L, Andelfinger, Gregor, McCallion, Andrew S, Dietz, Harry C
Formato: Artigo
Idioma:Inglês
Publicado: 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309588/
https://ncbi.nlm.nih.gov/pubmed/30455415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-018-0265-y
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