Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Abstract Background Pathogenic SMAD3 variants are responsible for a cardiovascular phenotype, mainly thoracic aortic aneurysms and dissections. Precocious identification of the vascular risk such as aortic dilatation in mutated patients has a major impact in terms of management, particularly to avoi...

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Bibliographic Details
Main Authors: Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié
Format: Article
Language:English
Published: Wiley 2020-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Aneurysms‐Osteoarthritis syndrome
Loeys–Dietz syndrome
SMAD3
TGFβ
Online Access:https://doi.org/10.1002/mgg3.1132

Internet

https://doi.org/10.1002/mgg3.1132

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