Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports
Abstract Background Thoracic aortic aneurysm and dissection (TAA/D) represents a potentially lethal disease group characterized by an increased risk of dissection or rupture. Only a small percentage (approximately 30%) of individuals with nonsyndromic familial TAA/D have a pathogenic variant in one...
Main Authors: | Anna Keravnou, Evy Bashiardes, Vassilis Barberis, Kyriaki Michailidou, Marinos Soteriou, George A. Tanteles, Marios A. Cariolou |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-09-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1378 |
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