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Article

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Human mutation - 1 Mar 2010

Roehl Angelika C, Cooper David N, Kluwe Lan, Helbrich Andreas, Wimmer Katharina, Högel Josef, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard

Abstract excerpt

Large deletions in the NF1 gene region at 17q11.2 are caused by nonallelic homologous recombination (NAHR). The recurrent type-2 NF1 deletions span 1.2 Mb, with breakpoints in the SUZ12 gene and SUZ12P. Type-2 NF1 deletions occur preferentially during mitosis and are associated with somatic mosai...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20052761
DOI: 10.1002/humu.21191

Genes

SUZ12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20052761-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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