Case report: Novel TBX5-related pathogenic mechanism of Holt–Oram syndrome

Case report: Novel TBX5-related pathogenic mechanism of Holt–Oram syndrome

Introduction: Holt–Oram syndrome (HOS) is a rare genetic disorder characterized by upper limb abnormalities, congenital heart defects, and/or conduction abnormalities. Sequence alteration of T-box transcription factor 5 (TBX5) is correlated with the incidence of HOS.Case description: We present the...

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Bibliographic Details
Main Authors: Yuheng Lang, Yue Zheng, Bingcai Qi, Weifeng Zheng, Chengxiu Zhao, Hu Zhai, Gang Wang, Zhiqiang Luo, Tong Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
Holt–Oram syndrome
Tbx5
ChIP
case report
SNP
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1063202/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1063202/full

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