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Nijmegenský zlomový syndróm

  1. Subject h.Nijmegenský zlomový syndróm
    Subject h.Nijmegen Breakage Syndrome
    Entry termsNijmegenský syndróm lomivosti
    Seemanovej syndróm II
    Seemanovej syndróm, typ 2
    Scope note in EnglishA 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.
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