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Article

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

BMC medical genetics - 26 Oct 2012

Mußotter Tanja, Kluwe Lan, Högel Josef, Nguyen Rosa, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard

Abstract excerpt

BACKGROUND: Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas....

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PMID: 23101500
DOI: 10.1186/1471-2350-13-98
PMCID: PMC3500256

Genes

SUZ12

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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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Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.PMID 23101500Read ↗

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Integration of single-nuclei RNA-sequencing, spatial transcriptomics and histochemistry defines the complex microenvironment of NF1-associated plexiform neurofibromasSemantic proximity Read ↗

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