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Article

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions.

Neurogenetics - 1 Aug 2012

Kehrer-Sawatzki Hildegard, Vogt Julia, Mußotter Tanja, Kluwe Lan, Cooper David N, Mautner Victor-Felix

Abstract excerpt

Patients with large deletions of the NF1 gene and its flanking regions (termed NF1 microdeletions) generally exhibit more severe clinical manifestations of neurofibromatosis type-1 (NF1). Here, we have investigated the clinical phenotype displayed by eight patients harbouring mosaic type-2 NF1 microdeletions. These patients did not exhibit facial dysmorphism, attention deficit hyperactivity disorder, delayed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22581253
DOI: 10.1007/s10048-012-0332-y

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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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