In this study, patients with intracranial meningioma who underwent surgical resection in a single institution were retrospectively reviewed. Next-generation sequencing for targeted gene regions was pe
Constitutional LZTR1 or SMARCB1 pathogenic variants have been found in ~86% of familial and ~40% of sporadic schwannomatosis cases. Hence, we performed massively parallel sequencing of the entire LZTR
BackgroundMonogenic autoinflammatory diseases (AID) are a rapidly expanding group of genetically diverse but phenotypically overlapping systemic inflammatory disorders associated with dysregulated inn