Radiation Oncology/Cancer Syndromes/Nijmegen Breakage Syndrome-Like Disorder
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Nijmegen Breakage Syndrome-Like Disorder
- Low levels of unstable RAD50 protein; part of MRN complex involved in DNA double-strand break recognition and repair
- Microcephaly, mental retardation, "bird-like" face, short stature
- 1 individual reported to-date
- Sensitivity to ionizing radiation
- Hannover; 2009 PMID 19409520 -- "Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder." (Waltes R, Am J Hum Genet. 2009 May; 84(5):605-16.)
- Case report of patient with NBSLD