Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

BACKGROUND: Bicuspid aortic valve (BAV) is the most common cardiovascular malformation in adults, with a prevalence of 0.5%–2%. The prevalence of BAV in cohorts who were ascertained due to thoracic aortic aneurysms or acute aortic dissections (TAD) is as high as 20%. However, the contribution of cau...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Musfee, Fadi I., Guo, Dongchuan, Pinard, Amélie C., Hostetler, Ellen M., Blue, Elizabeth E., Nickerson, Deborah A., Bamshad, Michael J., Milewicz, Dianna M., Prakash, Siddharth K.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549564/
https://ncbi.nlm.nih.gov/pubmed/32748548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1406
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