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33 results
  1. ... Search term GeneReviews Advanced Search Help < Prev Next > Nijmegen Breakage Syndrome Raymonda Varon , PhD, Ilja Demuth , PhD, and Krystyna ... Estimated reading time: 22 minutes Summary Clinical characteristics. Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, intrauterine growth ...
  2. ... syndrome. Learn more about the gene associated with Nijmegen breakage syndrome NBN Inheritance This condition is inherited in an ...
  3. ... tumor suppressor. Health Conditions Related to Genetic Changes Nijmegen breakage syndrome At least 10 mutations in the NBN gene have been found to cause Nijmegen breakage syndrome, a condition characterized by slow growth, recurrent infections, ...
  4. ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  5. ... T Fresno , a phenotype that combines features of Nijmegen breakage syndrome (NBS) and classic A-T [ Curry et al ... with one of the four disorders: A-T, Nijmegen breakage syndrome, Mre11 deficiency, or RAD50 deficiency; the mechanism is ...
  6. ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 10 ] Previous neoplasm: ...
  7. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  8. ... increased chromosome breakage in response to diepoxybutane (DEB). Nijmegen breakage syndrome (NBS), characterized by short stature, progressive microcephaly with ...
  9. ... microcolon-intestinal hypoperistalsis syndrome Berlin breakage syndrome, see Nijmegen breakage syndrome Bernard-Horner syndrome, see Horner syndrome Bernard-Soulier ...
  10. ... Neoplasms, Hereditary Nonpolyposis Fanconi Anemia Li-Fraumeni Syndrome Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Severe Combined Immunodeficiency Werner Syndrome ...
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