Novel homozygous mutation in the FANCA gene (c.2222G>A) in a Chinese girl of Fanconi anemia
Abstract Fanconi anemia is the most common inherited bone marrow failure syndrome. Its clinical manifestations include congenital dysplasia, bone marrow hematopoietic failure and tumor susceptibility. At present, there are 23 related gene abnormalities, among which FANCA is the most common. We repor...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2024-03-01
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| coleção: | Pediatric Discovery |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/pdi3.63 |
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