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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Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309588/
https://www.ncbi.nlm.nih.gov/pubmed/30455415
http://dx.doi.org/10.1038/s41588-018-0265-y

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