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26 results
  1. ... may contain more recent information. — ED. Table A. Nijmegen Breakage Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
  3. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  4. ... Progressive cerebellar degeneration No telangiectasias or immunodeficiency NBN Nijmegen breakage syndrome AR Small stature Evidence of excessive genomic instability ...
  5. ... breakage 2 Progressive bone marrow failure w/pancytopenia Nijmegen breakage syndrome NBN AR Microcephaly, progressive IUGR w/postnatal short ... click here . National Library of Medicine Genetics Home Reference Warsaw breakage syndrome American Society for Deaf Children Phone: 800-942- ...
  6. ... Neoplasms, Hereditary Nonpolyposis Fanconi Anemia Li-Fraumeni Syndrome Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Severe Combined Immunodeficiency Werner Syndrome ...
  7. ... 520 Li-Fraumeni Syndrome C18.452.284.600 Nijmegen Breakage Syndrome C18.452.284.760 Rothmund-Thomson Syndrome C18. ...
  8. ... 520...........................................Li-Fraumeni Syndrome C18.452.284.600...........................................Nijmegen Breakage Syndrome C18.452.284.760...........................................Rothmund-Thomson Syndrome C18. ...
  9. ... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...
  10. 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 ...
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