Article
Leukoencephalopathy with calcifications and cysts: A case report with literature review.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2023
Li Jingya, Li Chun, Zhang Qing, Qiu Chao
Abstract excerpt
Leukoencephalopathy with calcifications and cysts (LCC; OMIM #614561) is a rare disease and at present there are less than 100 cases reported worldwide. Mutations in the SNORD118 gene is now known to be the cause of LCC. We present a case who was heterozygous for the n.70G>A and n.6C>T sequence variants of the SNORD118 gene, variants which to date have not been described. Compared with the cases that we reviewed,...
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