Article
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2016
Kerstjens-Frederikse Wilhelmina S, van de Laar Ingrid M B H, Vos Yvonne J, Verhagen Judith M A, Berger Rolf M F, Lichtenbelt Klaske D, Klein Wassink-Ruiter Jolien S, van der Zwaag Paul A, du Marchie Sarvaas Gideon J, Bergman Klasien A, Bilardo Catia M, Roos-Hesselink Jolien W, Janssen Johan H P, Frohn-Mulder Ingrid M, van Spaendonck-Zwarts Karin Y, van Melle Joost P, Hofstra Robert M W, Wessels M W
Abstract excerpt
PURPOSE: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes aortic valve stenosis, a bicuspid aortic valve, coarctation of the aorta, and hypoplastic left heart syndrome. METHODS: NOTCH1 was screened for mutations in 428 nonsyndromic probands with LS-CHD, and family histories were obtained for all. When a mutation was...
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