Aida Bertoli-Avella and colleagues report the identification of SMAD3 mutations in individuals with a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. The mutations cause increased aortic expression of components of the TGF-β signaling pathway.
- Ingrid M B H van de Laar
- Rogier A Oldenburg
- Aida M Bertoli-Avella