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Article

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation.

Neurogenetics - 1 Feb 2010

Bacci Costanza, Sestini Roberta, Provenzano Aldesia, Paganini Irene, Mancini Irene, Porfirio Berardino, Vivarelli Rossella, Genuardi Maurizio, Papi Laura

Abstract excerpt

Schwannomatosis (MIM 162091) is a condition predisposing to the development of central and peripheral schwannomas; most cases are sporadic without a clear family history but a few families with a clear autosomal dominant pattern of transmission have been described. Germline mutations in SMARCB1 are associated with schwannomatosis. We report a family with multiple schwannomas and meningiomas. A SMARCB1 germline...

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Source

Identifiers

PMID: 19582488
DOI: 10.1007/s10048-009-0204-2

Genes

SMARCB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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