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Article

Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.

American journal of medical genetics. Part A - 1 Nov 2025

Gangal Sultan Kevser, Sezer Abdullah, Yazici Ozan, Erdem Haktan Bağış

Abstract excerpt

Nijmegen breakage syndrome (NBS, MIM #251260) is a rare DNA repair disorder characterized by microcephaly, growth retardation, dysmorphic features, hypergonadotropic hypogonadism, immunodeficiency, and predisposition to cancer. NBS results from biallelic pathogenic variants, predominantly truncating in the NBN gene, which plays a role in the homologous recombination pathway. Some variant/atypical clinical...

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Identifiers

PMID: 40605475
DOI: 10.1002/ajmg.a.64170

Genes

NBN

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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