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Although Labrune syndrome is a well‐known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This… Click to show full abstract
Although Labrune syndrome is a well‐known disorder characterized by a typical neuroradiological triad, namely leukoencephalopathy, intracranial calcifications and cysts, there are no reports of systemic involvement in this disorder. This paper attempts to describe a peculiar clinical manifestation related to a novel mutation in the SNORD118 gene.
Keywords:
novel mutation;
systemic involvement;
leukoencephalopathy intracranial;
labrune syndrome;
intracranial calcifications;
calcifications cysts
Journal Title: European Journal of Neurology
Year Published: 2020
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Journal Title: European Journal of Neurology
Year Published: 2020
Link to full text (if available)
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recommendations!