Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

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...

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Bibliographic Details
Main Authors: Luc Cozijnsen, Astrid S. Plomp, Jan G. Post, Gerard Pals, Natalija Bogunovic, Kak K. Yeung, Hans W. M. Niessen, Marie‐José T. H. Goumans, Daniela Q. C. M. Barge‐Schaapveld, Dimitra Micha
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Loeys–Dietz syndrome
Myogenic transdifferentiation of fibroblasts
Smooth muscle‐like cells
TGFBR1 mutation
Thoracic aortic aneurysm and aortic dissection
Online Access:https://doi.org/10.1002/mgg3.943

Internet

https://doi.org/10.1002/mgg3.943

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