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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...

詳細記述

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書誌詳細
出版年:J Pediatr Neurosci
主要な著者: Gowda, Vykuntaraju K., Srinivasan, Varun M., Bhat, Maya, Benakappa, Asha
フォーマット: Artigo
言語:Inglês
出版事項: Medknow Publications & Media Pvt Ltd 2017
主題:
オンライン・アクセス: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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