A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms

Published 2017 View Full Article

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Title
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms
Authors
Keywords
Aortic aneurysm, Aneurysms-osteoarthritis syndrome, LDS3, Smad3, TGFβ pathway, Exome sequencing
Journal
European Journal of Medical Genetics
Volume 60, Issue 4, Pages 228-231
Publisher
Elsevier BV
Online
2017-02-07
DOI
10.1016/j.ejmg.2017.02.001

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