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: | 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: | |
Online Access: | https://doi.org/10.1002/mgg3.943 |
Similar Items
-
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report
by: Anwar Baban, et al.
Published: (2018-09-01) -
Loeys-Dietz syndrome as a cause of aortic dissection type A.
by: Jany Rodríguez Londres, et al.
Published: (2011-01-01) -
Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy
by: Kushtrim Disha, et al.
Published: (2019-10-01) -
Valve Sparing Aortic Root Replacement in Children with Loeys-Dietz Syndrome
by: Hyung-Tae Sim, et al.
Published: (2015-08-01) -
Endovascular repair of a dissecting pararenal abdominal aortic aneurysm in a patient with type III Loeys-Dietz syndrome
by: Kirthi S. Bellamkonda, MSc, et al.
Published: (2021-03-01)