Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference5 articles.
1. Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review;Wang;J. Neurol. Sci.,2016
2. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy;Labrune;Neurology,1996
3. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus;Livingston;Neuropediatrics,2014
4. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause coats plus;Anderson;Nat. Genet.,2012
5. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts;Jenkinson;Nat. Genet.,2016
Cited by 2 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. Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature;Genes;2023-09-19
2. A brother and sister with intellectual disability and characteristic neuroimaging findings;European Journal of Paediatric Neurology;2018-09
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