Article
Fgfr3 mutation disrupts chondrogenesis and bone ossification in zebrafish model mimicking CATSHL syndrome partially via enhanced Wnt/β-catenin signaling.
Theranostics - 1 Jan 2020
Sun Xianding, Zhang Ruobin, Chen Hangang, Du Xiaolan, Chen Shuai, Huang Junlan, Liu Mi, Xu Meng, Luo Fengtao, Jin Min, Su Nan, Qi Huabing, Yang Jing, Tan Qiaoyan, Zhang Dali, Ni Zhenhong, Liang Sen, Zhang Bin, Chen Di, Zhang Xin, Luo Lingfei, Chen Lin, Xie Yangli
Abstract excerpt
CATSHL syndrome, characterized by camptodactyly, tall stature and hearing loss, is caused by loss-of-function mutations of fibroblast growth factor receptors 3 (FGFR3) gene. Most manifestations of patients with CATSHL syndrome start to develop in the embryonic stage, such as skeletal overgrowth, craniofacial abnormalities, however, the pathogenesis of these phenotypes especially the early maldevelopment remains...
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