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TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic Seizures
Jun Chul Byun, Jung Sook Ha, Chun Soo Kim
Ann Child Neurol. 2022;30(3):152-154.   Published online June 28, 2022
DOI: https://doi.org/10.26815/acn.2022.00178

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TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic Seizures
Annals of Child Neurology. 2022;30(3):152-154   Crossref logo
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TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation
Frontiers in Pediatrics. 2018;6:   Crossref logo
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TSEN54 Gene-Related Pontocerebellar-Hypoplasia and Role of Prenatal MR Imaging: Besides the Common Posterior Fossa Cystic Malformations
The Cerebellum. 2022;   Crossref logo
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Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4
Pediatric Neurology. 2011;45(3):185-188   Crossref logo
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TSEN54 mutation in a child with pontocerebellar hypoplasia type 1
Acta Neuropathologica. 2011;121(5):671-673   Crossref logo
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TSEN54 mutations cause pontocerebellar hypoplasia type 5
European Journal of Human Genetics. 2011;19(6):724-726   Crossref logo
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A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D
Medicina Clínica. 2021;156(2):94-95   Crossref logo
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Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2
Journal of Child Neurology. 2013;29(4):520-525   Crossref logo
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A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D
Medicina Clínica (English Edition). 2021;156(2):94-95   Crossref logo
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Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene
The Cerebellum. 2022;   Crossref logo
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