Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference9 articles.
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3. Genetic and clinical heterogeneity in eIF2B-related disorder;Maletkovic;J. Child Neurol.,2008
4. Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases;Mierzewska;Folia Neuropathol.,2006
5. Identification of ten novel mutations in patients with eIF2B-related disorders;Ohlenbusch;Hum. Mutat.,2005
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival;Journal of Molecular Neuroscience;2021-03-09
2. Comparative Proteome Research in a Zebrafish Model for Vanishing White Matter Disease;International Journal of Molecular Sciences;2021-03-08
3. Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease;Brain and Development;2015-11
4. Vanishing White Matter Disease Presenting as Opsoclonus Myoclonus Syndrome in Childhood—A Case Report and Review of the Literature;Pediatric Neurology;2014-07
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