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Article

Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.

Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Jul 2008

Huang Jian, Grotzer Michael A, Watanabe Takuya, Hewer Ekkehard, Pietsch Torsten, Rutkowski Stefan, Ohgaki Hiroko

Abstract excerpt

PURPOSE: Cerebellar medulloblastoma is a highly malignant, invasive embryonal tumor with preferential manifestation in children. Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer. There may be functional...

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Identifiers

PMID: 18593981
DOI: 10.1158/1078-0432.CCR-08-0098

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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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