A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

BACKGROUND: Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of 1%–2% in the general population. NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. Here, we identified novel in‐frame varian...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Park, Jin Seok, Jang, Shin Yi, Park, Seok Hee, Kim, Jong‐Won, Ki, Chang‐Seok, Kim, Duk‐Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503022/
https://www.ncbi.nlm.nih.gov/pubmed/30848080
http://dx.doi.org/10.1002/mgg3.620

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