SMAD3

Publications

Kang H et al. Somatic SMAD3-activating mutations cause melorheostosis by upregulating TGFB/SMAD pathway. J Exp Med. 2020;217(5). PMID: 32232430.

van de Laar IM et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011;43(2):121-6. PMID: 21217753.

Schepers D et al. A mutation update on the LDS-associated genes TGFB2/3 andSMAD2/3. Hum Mutat. 2018;39(5):621-34. PMID: 29392890.

Velchev JD et al. Hide and seek: somatic SMAD3 mutations in melorheostosis. J Exp Med. 2020; 217(5). PMID: 32289153.

Wischmeijer A et al. Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. Am J Med Genet A. 2013;161A(5):1028-35. PMID: 23554019.