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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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2020
Onderwerpen:
Clinical Reports
Online toegang: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
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