Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

Abstract 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. To date, more than 35 ciliary genes have been id...

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Bibliographic Details
Main Authors: Minna Luo, Li Cao, Zongfu Cao, Siyu Ma, Yue Shen, Di Yang, Chao Lu, Zaisheng Lin, Zhimin Liu, Yufei Yu, Ruikun Cai, Cuixia Chen, Huafang Gao, Xueyan Wang, Muqing Cao, Xu Ma
Format: Article
Language:English
Published: Wiley 2019-12-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CEP104
cerebellar vermis hypoplasia
Joubert syndrome
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1004

Internet

https://doi.org/10.1002/mgg3.1004

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