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

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 avoid dissec...

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Detalles Bibliográficos
Autores principales: Chesneau, Bertrand, Edouard, Thomas, Dulac, Yves, Colineaux, Hélène, Langeois, Maud, Hanna, Nadine, Boileau, Catherine, Arnaud, Pauline, Chassaing, Nicolas, Julia, Sophie, Jondeau, Guillaume, Plancke, Aurélie, Khau Van Kien, Philippe, Plaisancié, Julie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216810/
https://www.ncbi.nlm.nih.gov/pubmed/32154675
http://dx.doi.org/10.1002/mgg3.1132

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