De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia
We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature s...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2024-01-01
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| Col·lecció: | Case Reports in Hematology |
| Accés en línia: | http://dx.doi.org/10.1155/2024/6626388 |
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