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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The African Field Epidemiology Network
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250236/ https://www.ncbi.nlm.nih.gov/pubmed/32537088 http://dx.doi.org/10.11604/pamj.2020.35.85.14746 |