A novel nonsense RPS26 mutation in a patient with Diamond–Blackfan anemia: a case report
Abstract Background Diamond–Blackfan anemia is a rare congenital disorder characterized by erythroid hypoplasia and is associated with mutations in ribosomal protein genes. This case report describes a novel variant in the RPS26 gene, which, to our knowledge, has not been previously documented. Repo...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2024-11-01
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| Schriftenreihe: | Journal of Medical Case Reports |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s13256-024-04907-3 |
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