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Article

Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis.

Journal of medical genetics - 1 Jun 2008

Hadfield K D, Newman W G, Bowers N L, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans D G R

Abstract excerpt

BACKGROUND: Schwannomatosis is a rare condition characterised by multiple schwannomas and lack of involvement of the vestibular nerve. A recent report identified bi-allelic mutations in the SMARCB1/INI1 gene in a single family with schwannomatosis. We aimed to establish the contribution of the SMARCB1 and the NF2 genes to sporadic and familial schwannomatosis in our cohort. METHODS: We performed DNA sequence and...

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Source

Identifiers

PMID: 18285426
DOI: 10.1136/jmg.2007.056499

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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