Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Nature genetics - 1 Feb 2011
van de Laar Ingrid M B H, Oldenburg Rogier A, Pals Gerard, Roos-Hesselink Jolien W, de Graaf Bianca M, Verhagen Judith M A, Hoedemaekers Yvonne M, Willemsen Rob, Severijnen Lies-Anne, Venselaar Hanka, Vriend Gert, Pattynama Peter M, Collée Margriet, Majoor-Krakauer Danielle, Poldermans Don, Frohn-Mulder Ingrid M E, Micha Dimitra, Timmermans Janneke, Hilhorst-Hofstee Yvonne, Bierma-Zeinstra Sita M, Willems Patrick J, Kros Johan M, Oei Edwin H G, Oostra Ben A, Wessels Marja W, Bertoli-Avella Aida M
Abstract excerpt
Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected...
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