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Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene

A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weighted images, which revealed partial inversion on f...

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Dades bibliogràfiques
Publicat a:J Pediatr Neurosci
Autors principals: Gowda, Vykuntaraju K., Srinivasan, Varun M., Bhat, Maya, Benakappa, Asha
Format: Artigo
Idioma:Inglês
Publicat: Medknow Publications & Media Pvt Ltd 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5588653/
https://ncbi.nlm.nih.gov/pubmed/28904586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_183_16
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