R. Heck, Björn Fischer-Zirnsak, J. Photiadis, D. Horn, P. Gehle
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引用次数: 0
Abstract
Abstract Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajunctional segment in 1 patient and the aortic root in another. These cases highlight the complexity of signaling pathways and gene expression in the pathogenesis of aortic aneurysms.
期刊介绍：
Interactive CardioVascular and Thoracic Surgery (ICVTS) publishes scientific contributions in the field of cardiovascular and thoracic surgery, covering all aspects of surgery of the heart, vessels and the chest. The journal publishes a range of article types including: Best Evidence Topics; Brief Communications; Case Reports; Original Articles; State-of-the-Art; Work in Progress Report.
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