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Autor:
Muqing Cao, Zhimin Liu, Minna Luo, Li Cao, Xueyan Wang, Xu Ma, Cai Ruikun, Gao Huafang, Cao Zongfu, Yue Shen, Di Yang, Chao Lu, Zaisheng Lin, Yu Yufei, Siyu Ma, Chen Cuixia
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Background Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid‐hindbrain malformation called the “molar tooth sign” on axial magnetic resonance imaging. T