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18 results

  1. 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 ...
  2. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... January 26, 2000; Last Update: December 10, 2020. Nijmegen Breakage Syndrome Raymonda Varon, Ilja Demuth, and Krystyna H Chrzanowska. ...
  3. 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 ...
  4. Genetics of Hereditary Hematologic Malignancies (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK606139
    ... and nonmelanoma skin cancers Adolescents and young adults Nijmegen breakage syndrome NBS1 AR NHL, ALL Congenital malformations Presents more ...
  5. Monosomy 7 Predisposition Syndromes Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK571103
    ... aplastic bone marrow failure; rarely, myeloid neoplasms NBN Nijmegen breakage syndrome AR Microcephaly, craniofacial features, growth deficiency, recurrent infections ...
  6. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... therapy nicotine vaccine nicotinic acid night sweats NIH Nijmegen breakage syndrome Nilandron NILM nilotinib nilutamide nimodipine nimotuzumab nimustine Ninlaro ...
  7. X-Linked Hyper IgM Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1402
    ... Lymphopenia, ↑ α-fetoprotein, variable mitogen & antigen response NBN Nijmegen breakage syndrome AR Recurrent URTI/LRTI, malignancy, autoimmune conditions (primarily ...
  8. X-Linked Severe Combined Immunodeficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1410
    ... FOXI3 , FOXN1 , IKBKB , LCK , LIG4 , MTHFD1 , NBN (see Nijmegen Breakage Syndrome ), NHEJ1 , ORAI1 , PAX1 , SLC46A1 (see Hereditary Folate Malabsorption ), ...
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