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Article

Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.

Pediatric transplantation - 1 Mar 2015

Woźniak Magdalena, Krzywoń Marta, Hołda Mateusz K, Goździk Jolanta

Abstract excerpt

NBS is a rare autosomal recessive congenital disorder associated with chromosome instability caused by a mutation in the NBN gene (8q21). Clinical manifestations include microcephaly, growth retardation, combined immunodeficiency, and a strong predisposition to develop (mainly lymphatic) malignan...

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Identifiers

PMID: 25523867
DOI: 10.1111/petr.12420

Genes

NBN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25523867-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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