Nijmegen Breakage Syndrome
"Nijmegen Breakage Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
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A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
|Nijmegen Breakage Syndrome
- Nijmegen Breakage Syndrome
- Breakage Syndrome, Nijmegen
- Syndrome, Nijmegen Breakage
- Berlin Breakage Syndrome
Below are MeSH descriptors whose meaning is more general than "Nijmegen Breakage Syndrome".
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