Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

Abstract Background Joubert syndrome (JBTS) is a rare genetic disorder that is characterized by midbrain‐hindbrain malformations. Multiple variants in genes that affect ciliary function contribute to the genetic and clinical heterogeneity of JBTS and its subtypes. However, the correlation between ge...

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Bibliographic Details
Main Authors: Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang, Minna Luo, Muqing Cao, Zongfu Cao, Xu Ma
Format: Article
Language:English
Published: Wiley 2021-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CPLANE1
intrafamilial heterogeneity
Joubert syndrome
OFD VI
Online Access:https://doi.org/10.1002/mgg3.1682

Internet

https://doi.org/10.1002/mgg3.1682

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