Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome

Identification of a Pathogenic TGFBR2 Variant in a Patient With Loeys–Dietz Syndrome

Loeys–Dietz syndrome (LDS) is a rare connective tissue genetic disorder that is caused by a pathogenic variant in genes of transforming growth factor (TGF) beta receptor 1 (TGFBR1), TGFBR2, mothers against decapentaplegic homolog 2 (SMAD2), SMAD3, TGFB2, or TGFB3. It is characterized by aggressive v...

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Bibliographic Details
Main Authors: Xi Luo, Shan Deng, Ying Jiang, Xiang Wang, Abdulrahman Mustafa Ahmed Al-raimi, Long Wu, Xiaobin Liu, Yu Song, Xiao Chen, Feng Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Genetics
Subjects:
aorta dissection
aneurysms
Loeys–Dietz syndrome
transforming growth factor beta receptor 2
transforming growth factor β
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00479/full

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https://www.frontiersin.org/article/10.3389/fgene.2020.00479/full

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