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Article

[Clinical and genealogical characteristics in families with Nijmegen breakage syndrome].

TSitologiia i genetika - 1 Jan 2000

Kitsera N I, Polishchuk R S, Akopian H R, Markevych N V, Kostiuchenko L V, Troianovs'ka O O, Skoropad L L

Abstract excerpt

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, immunodeficiency and high predisposition for malignancies, particularly B-lymphoma. Clinical and genealogical analysis has been conducted in 7 families with NBS. Eight children with NBS (5 boys and 3 girls) were observed at the age from 7 months to 11 years. All the children were homozygous carriers for mutation...

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Identifiers

PMID: 16161417

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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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