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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 an...

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Detalles Bibliográficos
Autores principales:	Zhang, Li-Ping, Jia, Yu, Wang, Yu-Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500051/ https://www.ncbi.nlm.nih.gov/pubmed/34631621 http://dx.doi.org/10.3389/fped.2021.722105

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