Undiagnosed Anemia after 9 years: Diamond-Blackfan (homozygous Variant c.140G>T; p.Gly47Val in ADA2 Gene)
Context: Diamond-Blackfan anemia (DBA) is a rare autosomal recessive disorder characterized by erythroblastopenia and pure red cell aplasia. The condition typically results from an abnormality in a ribosomal protein gene. Case presentation: Cases of cytopenia have been linked to ADA2 deficiency c...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
SBMU Journals
2024-07-01
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| Serie: | Archives of Advances in Biosciences |
| Soggetti: | |
| Accesso online: | https://journals.sbmu.ac.ir/aab/article/view/44141 |
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