- ... Table 3. Disorders to Consider in the Differential Diagnosis of Nijmegen Breakage Syndrome View in own window Gene(s) Disease Name ... NHEJ) pathway. Management No clinical practice guidelines for Nijmegen ... Following Initial Diagnosis To establish the extent of disease and needs ...
- NLM Digital Collections - Drugs against cancer : stories of discovery and the quest for a curePublication: Bethesda, Maryland : National Cancer Institute, [2022]... disease) was found to be closely related to Nijmegen breakage syndrome (NBS) (described in Chapter 27A), both in the symptoms of the diseases and in the functional relationships ...
- ... syndrome. Learn more about the gene associated with Nijmegen breakage ... symptoms of the condition. Other Names for This Condition ...
- ... recognized retrospectively, assoc w/syndromic diagnoses such as Nijmegen breakage syndrome , ... diagnosis; IUGR = intrauterine growth restriction; MOI = mode of inheritance; ...
- ... Table 2. Disorders to Consider in the Differential Diagnosis of Warsaw ... breakage syndrome NBN AR Microcephaly, progressive IUGR w/ ...
- ... patients with DNA repair syndromes, including ataxia-telangiectasia, Nijmegen breakage syndrome, and constitutional mismatch repair deficiency.[ 13 ] The distribution ...
- ... published></health-condition-summary><health-condition-summary ><name >Nijmegen breakage syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... 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 ...
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