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Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome

Luo, MN; Lin, ZS; Zhu, T; Jin, MJ; Meng, D; He, RD; Cao, ZF; Shen, Y; Lu, C; Cai, RK; Zhao, Y; Wang, XY; Li, H; Wu, SJ; Zou, X; Luo, GJ; Cao, L; Huang, M; Jiao, HK; Gao, HF; Sui, RF; Zhao, CT; Ma, X; Cao, MQ

Ma, X (corresponding author), Natl Res Inst Family Planning, Natl Human Genet Resources Ctr, Beijing, Peoples R China.; Cao, MQ (corresponding author), Shanghai Jiao Tong Univ, Dept Pathophysiol, Key Lab Cell Differentiat & Apoptosis, Chinese Minist Educ,Sch Med, Shanghai, Peoples R China.; Sui, RF (corresponding author), Chinese Acad Med Sci, Peking Union Med Coll Hosp, Peking Union Med Coll, Dept Ophthalmol, Beijing, Peoples R China.; Zhao, CT (corresponding author), Ocean Univ China, Inst Evo

GENETICS IN MEDICINE, ; ():

Abstract

Purpose Ciliopathies are a group of disorders caused by defects of the cilia. Joubert syndrome (JBTS) is a recessive and pleiotropic ciliopathy that c......

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