- ... 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 ...
- ... 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 ...
- NLM Digital Collections - Drugs against cancer : stories of discovery and the quest for a curePublication: Bethesda, Maryland : National Cancer Institute, [2022]... 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 ...
- ... cancers that occur at an early age NBN Nijmegen breakage syndrome AR May manifest ↑ chromosome breakage w/MMC Short ...
- ... and nonmelanoma skin cancers Adolescents and young adults Nijmegen breakage syndrome NBS1 AR NHL, ALL Congenital malformations Presents more ...
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