Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

BACKGROUND: Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of infective endocarditis and aortic dissection. Loss of funct...

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Detalles Bibliográficos
Autores principales: Debiec, Radoslaw, Hamby, Stephen E., Jones, Peter D., Coolman, Sue, Asiani, Manish, Kharodia, Shireen, Skinner, Gregory J., Samani, Nilesh J., Webb, Tom R., Bolger, Aidan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549557/
https://www.ncbi.nlm.nih.gov/pubmed/32720365
http://dx.doi.org/10.1002/mgg3.1437

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