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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Pan Afr Med J
Egile Nagusiak: Hasbaoui, Brahim El, Elyajouri, Abdelhkim, Abilkassem, Rachid, Agadr, Aomar
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The African Field Epidemiology Network 2020
Gaiak:
Sarrera elektronikoa: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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