- ... 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 ...
- ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
- ... Progressive cerebellar degeneration No telangiectasias or immunodeficiency NBN Nijmegen breakage syndrome AR Small stature Evidence of excessive genomic instability ...
- ... Neoplasms, Hereditary Nonpolyposis Fanconi Anemia Li-Fraumeni Syndrome Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Severe Combined Immunodeficiency Werner Syndrome ...
- ... DNA repair defect syndromes which include ataxia-telangiectasia , Nijmegen breakage syndrome , and constitutional mismatch repair deficiency ). Past treatment for ...
- ... 520 Li-Fraumeni Syndrome C18.452.284.600 Nijmegen Breakage Syndrome C18.452.284.760 Rothmund-Thomson Syndrome C18. ...
- ... 520...........................................Li-Fraumeni Syndrome C18.452.284.600...........................................Nijmegen Breakage Syndrome C18.452.284.760...........................................Rothmund-Thomson Syndrome C18. ...
- ... Stringham HM, et al.: Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder ...
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