Mosaic schwannomatosis

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Synonyms: MNF3 | Mosaic SWN | Mosaic neurilemmomatosis | Mosaic neurofibromatosis type 3

A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic svhwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Mosaic schwannomatosis?

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Advocacy Organizations

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Clinical Trials

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