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18 results
  1. Nijmegen Breakage Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1176
    ... Table 3. Disorders to Consider in the Differential Diagnosis of Nijmegen Breakage Syndrome View in own window Gene(s) Disease Name ... NHEJ) pathway. Management No clinical practice guidelines for Nijmegen ... Following Initial Diagnosis To establish the extent of disease and needs ...
  2. Microcephalic Osteodysplastic Primordial Dwarfism Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575926
    ... recognized retrospectively, assoc w/syndromic diagnoses such as Nijmegen breakage syndrome , ... diagnosis; IUGR = intrauterine growth restriction; MOI = mode of inheritance; ...
  3. Nijmegen breakage syndrome 
    https://medlineplus.gov/.../condition/nijmegen-breakage-syndrome
    ... but they typically do not show signs and symptoms of the condition. ... National Organization for Rare Disorders (NORD) ...
  4. Warsaw Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541972
    ... Table 2. Disorders to Consider in the Differential Diagnosis of Warsaw ... breakage syndrome NBN AR Microcephaly, progressive IUGR w/ ...
  5. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. 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 ...
  7. 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 >< ...
  8. 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 ...
  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 ... absent radius syndrome AR Not assoc w/chromosome breakage Bilateral ... thrombocytopenia absent radius syndrome is confirmed by identification of a null heterozygous ...
  10. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65855
    ... DNA repair defect syndromes which include ataxia-telangiectasia , Nijmegen breakage syndrome , and constitutional mismatch repair deficiency ). Past treatment for ...
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