Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

Identification of Two de novo Variants of CACNA1A in Pediatric Chinese Patients With Paroxysmal Tonic Upgaze

Objective: Investigate the clinical manifestations and genotypes of paroxysmal tonic upgaze (PTU) in Chinese children.Patients and Methods: We report the clinical manifestations and genetic test results of four pediatric PTU patients in China. Recent articles on PTU cases are also summarized and ana...

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Bibliographic Details
Main Authors: Li-Ping Zhang, Yu Jia, Yu-Ping Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Pediatrics
Subjects:
paroxysmal tonic upgaze
growth retardation
CACNA1A mutation
pediatrics
next-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.722105/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2021.722105/full

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