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Nijmegenský zlomový syndróm
Record number d049932 Date 06.06.2025 Type M - MESH Topical term Nijmegenský zlomový syndróm Other term Slovak (Pseudonym) Nijmegenský syndróm lomivosti
Slovak (Pseudonym) Seemanovej syndróm II
Slovak (Pseudonym) Seemanovej syndróm, typ 2
UDC C18.452.284.600 Note 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. 
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