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Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

✍ Scribed by Bruno Drera; Marco Ritelli; Nicoletta Zoppi; Anita Wischmeijer; Maria Gnoli; Rossella Fattori; Pier Giacomo Calzavara-Pinton; Sergio Barlati; Marina Colombi


Book ID
119911371
Publisher
BioMed Central
Year
2009
Tongue
English
Weight
712 KB
Volume
4
Category
Article
ISSN
1750-1172

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Identification of 23 TGFBR2 and 6 TGFBR1
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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