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20 results
  1. ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  2. ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
  3. ... Neoplasms, Hereditary Nonpolyposis Fanconi Anemia Li-Fraumeni Syndrome Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Severe Combined Immunodeficiency Werner Syndrome ...
  4. ... DNA repair defect syndromes which include ataxia-telangiectasia , Nijmegen breakage syndrome , and constitutional mismatch repair deficiency ). Past treatment for ...
  5. ... 520 Li-Fraumeni Syndrome C18.452.284.600 Nijmegen Breakage Syndrome C18.452.284.760 Rothmund-Thomson Syndrome C18. ...
  6. ... 520...........................................Li-Fraumeni Syndrome C18.452.284.600...........................................Nijmegen Breakage Syndrome C18.452.284.760...........................................Rothmund-Thomson Syndrome C18. ...
  7. ... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...
  8. NLM Digital Collections - Drugs against cancer : stories of discovery and the quest for a cure 
    Publication: Bethesda, Maryland : National Cancer Institute, [2022]
    ... The new syndrome came to be known as Nijmegen Breakage Syndrome (NBS) and the responsible gene Nbsl . In addition ... 27 A.12. The first described cases of Nijmegen breakage syndrome. The proband (defining case), born in 1969, had ...
  9. ... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...
  10. ... and nonmelanoma skin cancers Adolescents and young adults Nijmegen breakage syndrome NBS1 AR NHL, ALL Congenital malformations Presents more ...
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