A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently been identified as a cause of this disorder, its...

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Detalles Bibliográficos
Autores principales: Kodama, Kazuo, Aoyama, Hiromi, Murakami, Yoshimi, Takanashi, Jun-ichi, Koshimizu, Eriko, Miyatake, Satoko, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Omata, Taku
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9842793/
https://www.ncbi.nlm.nih.gov/pubmed/36660574
http://dx.doi.org/10.1016/j.radcr.2022.11.033

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