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Neurofibromatosis type 2 and related disorders

19 Aug 2019

Abstract excerpt

PURPOSE OF REVIEW: Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. This review highlights their overlapping phenotypes, new insight into NF2 phenotype and treatment outcomes. RECENT FINDINGS: Mosaic NF2 is more prevalent than previously thought. Use of next-generation sequencing and tumour testing is...

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PMID: 31425178
DOI: 10.1097/cco.0000000000000579

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