Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature
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DOI: 10.1002/mgg3.1132
Abstract: 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… read more here.
Keywords: genetic data; clinical genetic; patients smad3; data new ... See more keywords