Characterization of large genomic deletions in the <it>FBN1 </it>gene using multiplex ligation-dependent probe amplification

• Main Authors: Lewis Tracey (Author), Yetman Angela T (Author), Rope Alan F (Author), Wooderchak-Donahue Whitney (Author), Furtado Larissa V (Author), Plant Parker (Author), Bayrak-Toydemir Pinar (Author)
• Format: Book
• Published: BMC, 2011-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifes...