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

Hilhorst-Hofstee, Y.; Scholte, A.J.H.A.; Rijlaarsdam, M.E.B.; Haeringen, A. van; Kroft, L.J.; Reijnierse, M.; ... ; Breuning, M.H. (2013)

Article / Letter to editor

• aortic aneurysm
• aortic dissection
• copy number variant
• osteoarthritis
• SMAD3

• All authors: 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.
• Date: 2013-04-30
• Journal: Clinical Genetics
• Volume: 83
• Issue: 4
• Pages: 337 - 344
• DOI: doi:10.1111/j.1399-0004.2012.01931.x