ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

A. Gould, Russell; Aziz, Hamza; E. Woods, Courtney; Alejandro Seman-Senderos, Manuel; Sparks, Elizabeth; Preuß, Christoph; Wünnemann, Florian; Bedja, Djahida; Rae Moats, Cassandra; A. McClymont, Sarah; Rose, Rebecca; Sobreira, Nara; Ling, Hua; MacCarrick, Gretchen; Kumar, Ajay; Luyckx, Ilse; Cannaerts, Elyssa; Verstraeten, Aline; Björk, Hanna; Lehsau, Ann-Cathrin; Jaskula-Ranga, Vinod; Lauridsen, Henrik; A. Shah, Asad; Bennett, Christopher; T. Ellinor, Patrick; Lin, Honghuang; M. Isselbacher, Eric; L. Lino Cardenas, Christian; T. Butcher, Jonathan; Chad Hughes, G.; E. Lindsay, Mark; Mertens, Luc; Franco‐Cereceda, Anders; M.A. Verhagen, Judith; W. Wessels, Marja; A. Mohamed, Salah; Eriksson, Per; Mital, Seema; Van Laer, Lut; Loeys, Bart; Andelfinger, Grégor; S. McCallion, Andrew; C. Dietz, Harry

doi:10.1038/s41588-018-0265-y

Public

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

Published in Nature Genetics • Nov 14, 2018

Authors:

Russell A. Gould

Hamza Aziz

Courtney E. Woods

Abstract

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 (for example, NO...

Subject

Bicuspid aortic valve

Thoracic aortic aneurysm

Biology

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!