Loeys-Dietz syndrome (LDS): in vitro studies of skin fibroblasts showing differences between mutations in the TGFBR1 and TGFBR2 genes

Identification of 23 TGFBR2 and 6 TGFBR1

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

✍ Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Laurent Gouya; Gille 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB 👁 1 views

TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected