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Article

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Journal of medical genetics - 1 Mar 2006

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M

Abstract excerpt

BACKGROUND: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by congenital microcephaly, mild dysmorphic facial appearance, growth retardation, immunodeficiency, and greatly increased risk for lymphoreticular malignancy. Most NBS patients are of Slavic origin and homozygous for the...

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Identifiers

PMID: 16033915
DOI: 10.1136/jmg.2005.035287
PMCID: PMC2563240

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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