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

by Radoslaw Debiec, Stephen E. Hamby, Peter D. Jones, Sue Coolman, Manish Asiani, Shireen Kharodia, Gregory J. Skinner, Nilesh J. Samani, Tom R. Webb, Aidan Bolger
Published 2020-10-01