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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Principais autores:	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
格式:	Artigo
語言:	Inglês
出版:	Wiley 2020-05-01
叢編:	Molecular Genetics & Genomic Medicine
主題:	Aneurysms‐Osteoarthritis syndrome Loeys–Dietz syndrome SMAD3 TGFβ
在線閱讀:	https://doi.org/10.1002/mgg3.1132
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