Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.
Giulio BonomoE MonfriniL BorelliniRoberta BonomoF ArientiM C SaettiA Di FonzoM LocatelliPublished in: European journal of neurology (2020)
This is the first report of adult-onset Labrune syndrome with an unusual systemic involvement presenting a novel mutation in the SNORD118 gene.