We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
- Authors
van de Laar, Ingrid M B H; van der Linde, Denise; Oei, Edwin H G; Bos, Pieter K; Bessems, Johannes H; Bierma-Zeinstra, Sita M; van Meer, Belle L; Pals, Gerard; Oldenburg, Rogier A; Bekkers, Jos A; Moelker, Adriaan; de Graaf, Bianca M; Matyas, Gabor; Frohn-Mulder, Ingrid M E; Timmermans, Janneke; Hilhorst-Hofstee, Yvonne; Cobben, Jan M; Bruggenwirth, Hennie T; van Laer, Lut; Loeys, Bart; De Backer, Julie; Coucke, Paul J; Dietz, Harry C; Willems, Patrick J; Oostra, Ben A; De Paepe, Anne; Roos-Hesselink, Jolien W; Bertoli-Avella, Aida M; Wessels, Marja W
- Abstract
Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and cutaneous anomalies, and early-onset osteoarthritis. AOS is caused by mutations in the SMAD3 gene.
- Publication
Journal of medical genetics, 2012, Vol 49, Issue 1, p47
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmedgenet-2011-100382