Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants

Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants

Background: Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a rare autosomal recessive cerebral microangiopathy. Recently, biallelic variants in a non-protein-coding gene SNORD118 have been discovered to cause LCC.Case Presentation: We here report a genetically confirmed childhoo...

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Bibliographic Details
Main Authors: Hong Jin, Xiaotun Ren, Husheng Wu, Yanqi Hou, Fang Fang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Neurology
Subjects:
leukoencephalopathy
calcifications
cysts
SNORD118
child
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.585606/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.585606/full

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