204 top medical experts on Nijmegen Breakage Syndrome across 26 countries and 4 U.S. states, including 24 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Nijmegen Breakage Syndrome: 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.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): DNA Repair-Deficiency Disorders (751).
  4. Clinical Trials ClinicalTrials.gov : at least 1 including 1 Recruiting


  

        

                    


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