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A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing
Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Ital J Pediatr |
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| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2015
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4438458/ https://ncbi.nlm.nih.gov/pubmed/25953249 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-015-0142-6 |
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