Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset co...
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
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Author / Creator
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. , University of Washington Center for Mendelian Genomics (UW‐CMG) and University of Washington Center for Mendelian Genomics (UW-CMG)
Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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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 causal BAV genes to TAD is not known. Therefore, we...
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Full title
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
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TN_cdi_doaj_primary_oai_doaj_org_article_1d158b20e0ea44649fa7e87963d23e6a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1d158b20e0ea44649fa7e87963d23e6a
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1406
