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Article

Nijmegen breakage syndrome.

Advances in experimental medicine and biology - 1 Jan 2007

Kondratenko Irina, Paschenko Olga, Polyakov Alexandr, Bologov Andrey

Abstract excerpt

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, characterized by microcephaly, growth retardation, immunodeficiency, chromosome instability, radiation sensitivity, and a strong predisposition to lymphoid malignancy. The gene responsible for the development of this syndrome (NBS1) was mapped on chromosome 8q21. The product of this gene--nibrin--is a protein with 95 kDa molecular weight...

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Identifiers

PMID: 17712992
DOI: 10.1007/978-0-387-72005-0_6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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