2021•Genetics in MedicineRequires access

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome

Minna Luo, Zaisheng Lin, Tian Zhu, Minjun Jin, Dan Meng, Ruida He, Zongfu Cao, Yue Shen, Chao Lu, Ruikun Cai, Yong Zhao, Xueyan Wang, Hui Li, Shijing Wu, Xuan Zou, Guanjun Luo, Li Cao, Min Huang, Huike Jiao, Huafang Gao, Ruifang Sui, Chengtian Zhao, Xu Ma, Muqing Cao

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Key concepts: Ciliopathy, Intraflagellar transport, Cilium, Ciliopathies, Joubert syndrome, Ciliogenesis, Biology, Zebrafish