- ... 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 ...
- ... syndrome. Learn more about the gene associated with Nijmegen breakage syndrome NBN Inheritance This condition is inherited in an ...
- ... 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, ...
- ... 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 ...
- ... microcolon-intestinal hypoperistalsis syndrome Berlin breakage syndrome, see Nijmegen breakage syndrome Bernard-Horner syndrome, see Horner syndrome Bernard-Soulier ...
- ... Neoplasms, Hereditary Nonpolyposis Fanconi Anemia Li-Fraumeni Syndrome Nijmegen Breakage Syndrome Rothmund-Thomson Syndrome Severe Combined Immunodeficiency Werner Syndrome ...
- ... night blindness Niikawa-Kuroki syndrome, see Kabuki syndrome Nijmegen breakage syndrome NK-AML, see Cytogenetically normal acute myeloid leukemia ...
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