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20 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Nijmegen Breakage Syndrome Raymonda Varon , PhD, Ilja Demuth , PhD, and Krystyna ... Estimated reading time: 27 minutes Summary Clinical characteristics. Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth ...
  2. ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
  4. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  5. ... Progressive cerebellar degeneration No telangiectasias or immunodeficiency NBN Nijmegen breakage syndrome AR Small stature Evidence of excessive genomic instability ...
  6. ... DNA repair defect syndromes which include ataxia-telangiectasia , Nijmegen breakage syndrome , and constitutional mismatch repair deficiency ). Past treatment for ...
  7. ... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...
  8. ... January 26, 2000; Last Update: December 10, 2020. Nijmegen Breakage Syndrome Raymonda Varon, Ilja Demuth, and Krystyna H Chrzanowska. ...
  9. ... breakage 2 Progressive bone marrow failure w/pancytopenia Nijmegen breakage syndrome NBN AR Microcephaly, progressive IUGR w/postnatal short ...
  10. ... Clinodactyly Dental anomalies Global DD Microcephaly Synophrys NBN Nijmegen breakage syndrome AR Chromosome instability Microcephaly Sloping forehead PCNT Microcephalic ...
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