Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

27 results
  1. ... Table 2. Disorders to Consider in the Differential Diagnosis of Nijmegen Breakage Syndrome View in own window Disease Name Gene(s) ... the ATM pathogenic variant A-T Fresno have symptoms of both Nijmegen breakage syndrome and ataxia-telangiectasia (A-T) [ Curry et al ...
  2. ... syndrome. Learn more about the gene associated with Nijmegen breakage ... symptoms of the condition. Other Names for This Condition ...
  3. ... steps of DNA repair are still incompletely understood. Nijmegen ... ataxia or telangiectasia. Their symptoms overlap with A-T Fresno (see Non-Classic ...
  4. ... pigmentosum , Cockayne syndrome , and XFE progeroid syndrome. Differential ... breakage syndrome (NBS), characterized by short stature, progressive ...
  5. ... Disorder Gene(s) MOI Clinical Features of Differential Diagnosis Disorder Overlapping w/Warsaw syndrome ... breakage syndrome NBN AR Microcephaly, progressive IUGR w/ ...
  6. ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 10 ] Previous neoplasm: ...
  7. ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome</url><title >Nijmegen breakage syndrome</title><other_names >< ...
  9. ... microcolon-intestinal hypoperistalsis syndrome Berlin breakage syndrome, see Nijmegen breakage syndrome Bernard-Horner syndrome, see Horner syndrome Bernard-Soulier ...
  10. ... night blindness Niikawa-Kuroki syndrome, see Kabuki syndrome Nijmegen breakage syndrome NK-AML, see Cytogenetically normal acute myeloid leukemia ...
previous · 1 · 2 · 3 · next