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CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss
Jun Chul Byun, Jung Sook Ha
Ann Child Neurol. 2022;30(4):216-219.   Published online September 22, 2022
DOI: https://doi.org/10.26815/acn.2022.00283

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CASK Mutation in an Infant with Microcephaly, Pontocerebellar Hypoplasia, and Hearing Loss
Annals of Child Neurology. 2022;30(4):216-219   Crossref logo
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A Novel Loss-of-function Pathogenic Missense Mutation in CASK Gene Causes Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia
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P105 – 2378: Microcephaly, pontocerebellar hypoplasia and epilepsy in patients with CASK mutations
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Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia
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Genetic mutation in pontocerebellar hypoplasia
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Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: A systemic atrophy with early onset
Journal of the Neurological Sciences. 1990;97(1):25-42   Crossref logo
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TSEN54 mutation in a child with pontocerebellar hypoplasia type 1
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Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures
Pediatric Research. 2018;84(3):435-441   Crossref logo
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