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Article

Germline mutation of INI1/SMARCB1 in familial schwannomatosis.

American journal of human genetics - 1 Apr 2007

Hulsebos Theo J M, Plomp Astrid S, Wolterman Ruud A, Robanus-Maandag Els C, Baas Frank, Wesseling Pieter

Abstract excerpt

Patients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2. We report an inactivating germline mutation in exon 1 of the tumor-suppressor gene INI1 in a father and daughter who both had schwannomatosis. Inactivation of the wild-...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17357086
DOI: 10.1086/513207
PMCID: PMC1852715

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17357086-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Germline mutation of INI1/SMARCB1 in familial schwannomatosis.PMID 17357086Read ↗

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