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Article

[Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile].

Revista medica de Chile - 1 Feb 2004

Marcelain Katherine, Aracena Mariana, Be Cecilia, Navarrete Carmen Luz, Moreno Rosa, Santos Manuel, Pincheira Juana

Abstract excerpt

The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for nibrin (Nbs1/p95), a DNA repair protein that is functionally linked to ATM, the kinase protein product of the gene responsible of ataxia-telangiectasia (A-T). We report the clinical, cytogenetic and...

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Source

Identifiers

PMID: 15449558
DOI: 10.4067/s0034-98872004000200011

Genes

ATM

Provenance

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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