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  1. Nijmegen Breakage Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1176
    ... may contain more recent information. — ED. Table A. Nijmegen Breakage Syndrome: Genes and ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  4. Bloom Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1398
    ... Progressive cerebellar degeneration No telangiectasias or immunodeficiency NBN Nijmegen breakage syndrome AR Small stature Evidence of excessive genomic instability ...
  5. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 520 Li-Fraumeni Syndrome C18.452.284.600 Nijmegen Breakage Syndrome C18.452.284.760 Rothmund-Thomson Syndrome C18. ...
  6. DDX11-Related Cohesinopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... malformations Corneal opacities Not assoc w/SNHL NBN Nijmegen breakage syndrome AR Microcephaly, progressive Early growth deficiency (more pronounced ... live 20 November 2018 (ea, dc) Original submission ... Chitayat D. Warsaw breakage syndrome: further clinical and genetic delineation. Am J Med ...
  7. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...
  8. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... Clinodactyly Dental anomalies Global DD Microcephaly Synophrys NBN Nijmegen breakage syndrome AR Chromosome instability Microcephaly Sloping forehead PCNT Microcephalic ...
  9. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...
  10. NLM Digital Collections - Drugs against cancer : stories of discovery and the quest for a cure 
    Publication: Bethesda, Maryland : National Cancer Institute, [2022]
    resource.nlm.nih.gov/9918505188606676
    ... 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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