TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 in a Newborn with Refractory Myoclonic Seizures
Author:
Publisher
The Korean Child Neurology Society
Subject
Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Link
http://annchildneurol.org/upload/pdf/acn-2022-00178.pdf
Reference10 articles.
1. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
2. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?
3. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
4. What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
5. Pontocerebellar Hypoplasia: a Pattern Recognition Approach
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