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Article

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.

Clinical genetics - 1 May 2000

Kleier S, Herrmann M, Wittwer B, Varon R, Reis A, Horst J

Abstract excerpt

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder which belongs to the group of inherited chromosomal instability syndromes. The clinical characteristics include severe microcephaly, a dysmorphic facies, and immunodeficiency with predisposition to malignancies. While the cel...

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Identifiers

PMID: 10852373
DOI: 10.1034/j.1399-0004.2000.570509.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10852373-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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