Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

Background: Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.2DS), the contribution of rare copy number vari...

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Autors principals: DiGregorio, H, Mansoorshahi, S, Carlisle, SG, Tovar Pensa, C, Watts, A, McNeely, C, Sabate-Rotes, A, Yetman, A, Michelena, HI, De Backer, JFA, Mosquera, LM, Bissell, MM, Andreassi, MG, Foffa, I, Hui, DS, Caffarelli, A, Kim, YY, Citro, R, De Marco, M, Tretter, JT, McBride, KL, Body, SC, Milewicz, DM, Prakash, SK
Format: Journal article
Idioma:English
Publicat: BMJ Publishing Group 2024

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