An unanticipated copy number variant ofchromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Author(s):
Hilhorst-Hofstee, Y.; Scholte, A.J.H.A.; Rijlaarsdam, M.E.B.; Haeringen, A. van; Kroft, L.J.; Reijnierse, M.; Ruivenkamp, C.A.L.; Versteegh, M.I.M.; Pals, G.; Breuning, M.H. (0000-0002-8212-4319)
Published
2013
Publication type
Article / Letter to editor
aortic aneurysmaortic dissectioncopy number variantosteoarthritisSMAD3
Date issued
2013-04-30
Language
English
Is part of
Clinical Genetics (2013), Vol. 83, no. 4, p. 337-344
hdl
1887/97755
doi
10.1111/j.1399-0004.2012.01931.x