Nijmegen breakage syndrome: case report and review of literature
Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by genomic instability and increased risk of haematopoietic malignancies observed in more than 40% of the patients by the time they are 20 years old. The underlying gene, NBS1, is located on human chromo...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
The Pan African Medical Journal
2020-03-01
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Series: | The Pan African Medical Journal |
Subjects: | |
Online Access: |
https://www.panafrican-med-journal.com/content/article/35/85/pdf/85.pdf
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