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Article

Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.

Human genetics - 1 Jul 2018

Kehrer-Sawatzki Hildegard, Kluwe Lan, Friedrich Reinhard E, Summerer Anna, Schäfer Eleonora, Wahlländer Ute, Matthies Cordula, Gugel Isabel, Farschtschi Said, Hagel Christian, Cooper David N, Mautner Victor-Felix

Abstract excerpt

Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities. Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. Here, we studied 15 sporadic patients with multiple non-intradermal schwannomas, but lacking vestibular schwannomas and...

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Source

Identifiers

PMID: 30006736
DOI: 10.1007/s00439-018-1909-9

Genes

LZTR1
SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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