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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Main Authors: Li-Ping Zhang (Author), Yu Jia (Author), Yu-Ping Wang (Author)
Format: Book
Published: Frontiers Media S.A., 2021-09-01T00:00:00Z.
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3rd Floor Main Library

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