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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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Bibliografske podrobnosti
izdano v:J Pediatr Neurosci
Main Authors: Gowda, Vykuntaraju K., Srinivasan, Varun M., Bhat, Maya, Benakappa, Asha
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2017
Teme:
Online dostop: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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