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Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report
BACKGROUND: Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bone marrow failure, and high risk of cancer. The diagnosis is based on morpholog...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7418427/ https://www.ncbi.nlm.nih.gov/pubmed/32793304 http://dx.doi.org/10.1186/s13039-020-00503-4 |