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Article

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

Gene - 15 Apr 2026

Sun Hui, Yang Bingyu, Wang Fengyun, Xie Rongrong, Chen Ting, Chen Xiuli, Wang Xiaoyan, Chen Linqi, Wu Haiying

Abstract excerpt

BACKGROUND: Nijmegen breakage syndrome-like disorder (NBSLD) is a rare chromosomal instability syndrome caused by biallelic pathogenic variants in RAD50, which is a key component of the MRE11-RAD50-NBS1 (MRN) complex involved in DNA double-strand break repair. Merely few cases have been reported worldwide, and its phenotypic spectrum remains incompletely defined. CASE PRESENTATION: We report a 6-year-old Chinese...

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Identifiers

PMID: 41655867
DOI: 10.1016/j.gene.2026.150042

Genes

RAD50
MRE11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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