Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt

Identification of a novel TBX5 c.755 + 1 G > A variant and related pathogenesis in a family with Holt–Oram syndrome

Published:2021-09-06 Issue:1 Volume:188 Page:58-70
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Wang De‐Gang¹²³^ORCID,Dong Xing‐Sheng²,Xiong Yi²³,Li Zhi‐Ming²,Xie Ying‐Jun⁴,Liang Shu‐Hua³,Huang Tian‐Hua¹⁵

Affiliation:

1. Research Center for Reproductive Medicine Shantou University Medical College Shantou China

2. Prenatal Diagnosis Center Boai Hospital of Zhongshan Zhongshan China

3. The Second School of Clinical Medicine, Southern Medical University Guangzhou China

4. Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province The Third Affiliated Hospital of Guangzhou Medical University Guangzhou China

5. Chengdu Jinxin Research Institute for Reproductive Medicine and Genetics Chengdu China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62488

Reference49 articles.

1. Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

2. TBX5 and NuRD Divide the Heart

3. A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

4. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

5. MicroRNA 218 Mediates the Effects of Tbx5a Over-Expression on Zebrafish Heart Development

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