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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549557/
https://ncbi.nlm.nih.gov/pubmed/32720365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1437
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados