Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

doi:10.1016/j.jacc.2011.12.052

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Article

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

Journal of the American College of Cardiology - 31 Jul 2012

van der Linde Denise, van de Laar Ingrid M B H, Bertoli-Avella Aida M, Oldenburg Rogier A, Bekkers Jos A, Mattace-Raso Francesco U S, van den Meiracker Anton H, Moelker Adriaan, van Kooten Fop, Frohn-Mulder Ingrid M E, Timmermans Janneke, Moltzer Els, Cobben Jan M, van Laer Lut, Loeys Bart, De Backer Julie, Coucke Paul J, De Paepe Anne, Hilhorst-Hofstee Yvonne, Wessels Marja W, Roos-Hesselink Jolien W

Abstract excerpt

OBJECTIVES: The purpose of this study was describe the cardiovascular phenotype of the aneurysms-osteoarthritis syndrome (AOS) and to provide clinical recommendations. BACKGROUND: AOS, caused by pathogenic SMAD3 variants, is a recently described autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. METHODS: AOS patients in participating centers...

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Identifiers

PMID: 22633655
DOI: 10.1016/j.jacc.2011.12.052

Genes

SMAD3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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