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Published in 2020 at "Journal of Child Neurology"
DOI: 10.1177/0883073820958330
Abstract: Leukoencephalopathy with calcifications and cysts (LCC) is a neurological syndrome recently associated with pathogenic variants in SNORD118. We report autopsy neuropathological findings from an individual with genetically confirmed LCC. Histologic studies included staining of formalin-fixed…
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Keywords:
cerebral microangiopathy;
cerebral calcifications;
microangiopathy leukoencephalopathy;
calcifications cysts ... See more keywords