A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome

Abstract Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling; nevertheless, LDS type 1/2 caused by TGFB...

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Bibliographic Details
Main Authors: Satoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Ryo Inuzuka, Yuki Taniguchi, Masaru Hatano, Issei Komuro
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
aortic aneurysm
functional assay
genetic analysis
transforming growth factor‐β
Online Access:https://doi.org/10.1002/mgg3.2257

Internet

https://doi.org/10.1002/mgg3.2257

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