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Nijmegen breakage syndrome: case report and review of literature
Nijmegen Breakage Syndrome (NBS) is a rare autosomalrecessive DNA repair disorder characterized by genomic instability andincreased risk of haematopoietic malignancies observed in morethan 40% of the patients by the time they are 20 years old. The underlying gene, NBS1, is located on human chromosom...
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| Publicado en: | Pan Afr Med J |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
The African Field Epidemiology Network
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7250236/ https://ncbi.nlm.nih.gov/pubmed/32537088 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11604/pamj.2020.35.85.14746 |
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