Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

Abstract Background Rubinstein–Taybi syndrome (RTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Previous studies have reported that large deletions contribute to more severe RTS phenotypes than those caused by CREBBP point mutations, suggesting a concurrent pathogeneti...

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Bibliographic Details
Main Authors: Yueheng Wu, Yu Xia, Ping Li, Hui-Qi Qu, Yichuan Liu, Yongchao Yang, Jijin Lin, Meng Zheng, Lifeng Tian, Zhuanbin Wu, Shufang Huang, Xianyu Qin, Xianwu Zhou, Shaoxian Chen, Yanying Liu, Yonghua Wang, Xiaofeng Li, Hanshi Zeng, Hakon Hakonarson, Jian Zhuang
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ADCY9
Congenital heart defects
MMP9
Rubinstein-Taybi syndrome
Online Access:http://link.springer.com/article/10.1186/s13023-020-01378-9

Internet

http://link.springer.com/article/10.1186/s13023-020-01378-9

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