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

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 pathogenetic role o...

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Detalles Bibliográficos
Autores principales: Wu, Yueheng, Xia, Yu, Li, Ping, Qu, Hui-Qi, Liu, Yichuan, Yang, Yongchao, Lin, Jijin, Zheng, Meng, Tian, Lifeng, Wu, Zhuanbin, Huang, Shufang, Qin, Xianyu, Zhou, Xianwu, Chen, Shaoxian, Liu, Yanying, Wang, Yonghua, Li, Xiaofeng, Zeng, Hanshi, Hakonarson, Hakon, Zhuang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178576/
https://www.ncbi.nlm.nih.gov/pubmed/32321550
http://dx.doi.org/10.1186/s13023-020-01378-9

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