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24 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. ... 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. ... Clinodactyly Dental anomalies Global DD Microcephaly Synophrys NBN Nijmegen breakage syndrome AR Chromosome instability Microcephaly Sloping forehead PCNT Microcephalic ...
  10. ... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...
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