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Identification of a novel TGFBR1 mutation in a Loeys–Dietz syndrome type II patient with vascular Ehlers–Danlos syndrome phenotype

✍ Scribed by B Drera; G Tadini; S Barlati; M Colombi


Book ID
110888536
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
285 KB
Volume
73
Category
Article
ISSN
0009-9163

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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