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 childho...

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Detalles Bibliográficos
Autores principales: Jin, Hong, Ren, Xiaotun, Wu, Husheng, Hou, Yanqi, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248351/
https://www.ncbi.nlm.nih.gov/pubmed/34220662
http://dx.doi.org/10.3389/fneur.2021.585606

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248351/
https://www.ncbi.nlm.nih.gov/pubmed/34220662
http://dx.doi.org/10.3389/fneur.2021.585606

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