Article
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome.
Orphanet journal of rare diseases - 22 Apr 2020
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
Abstract excerpt
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 of flanking genes, typical of contiguous gene syndromes, but the detailed genetics are unclear. RESULTS: This study...
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