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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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| Publicado no: | Nat Genet |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6309588/ https://ncbi.nlm.nih.gov/pubmed/30455415 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-018-0265-y |
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