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Article

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

American journal of human genetics - 1 May 2009

Waltes Regina, Kalb Reinhard, Gatei Magtouf, Kijas Amanda W, Stumm Markus, Sobeck Alexandra, Wieland Britta, Varon Raymonda, Lerenthal Yaniv, Lavin Martin F, Schindler Detlev, Dörk Thilo

Abstract excerpt

The MRE11/RAD50/NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks (DSBs). Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively. To date, no disease due to RAD50 deficiency has been described. Here, we report on a patient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19409520
DOI: 10.1016/j.ajhg.2009.04.010
PMCID: PMC2681000

Genes

RAD50
NBN
ATM
MRE11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.PMID 19409520Read ↗

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