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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Bibliografiske detaljer
Udgivet i:Pan Afr Med J
Main Authors: Hasbaoui, Brahim El, Elyajouri, Abdelhkim, Abilkassem, Rachid, Agadr, Aomar
Format: Artigo
Sprog:Inglês
Udgivet: The African Field Epidemiology Network 2020
Fag:
Case Report
Online adgang: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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