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Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

✍ Scribed by Arslan-Kirchner, Mine; Epplen, Jörg T; Faivre, Laurence; Jondeau, Guillaume; Schmidtke, Jörg; De Paepe, Anne; Loeys, Bart


Book ID
109849511
Publisher
Nature Publishing Group
Year
2011
Tongue
English
Weight
198 KB
Volume
19
Category
Article
ISSN
1018-4813

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Identification of 23 TGFBR2 and 6 TGFBR1
✍ 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