SMAD2Mutations Are Associated with Arterial Aneurysms and Dissections
Abstract
We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-β signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are...
Paper Details
Title
SMAD2Mutations Are Associated with Arterial Aneurysms and Dissections
Published Date
Sep 10, 2015
Journal
Volume
36
Issue
12
Pages
1145 - 1149
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