Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome
Abstract Background Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD. Methods Co‐segregation analysis was performed followed by functional investigations, includin...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2019-10-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.943 |