Molecular diagnosis of Fanconi anemia with next-generation sequencing in a case with subtle signs and a negative chromosomal breakage test
Fanconi anemia (FA) is an inherited disorder characterized by malformations, marrow failure, and predisposition to cancer. Birth defects and laboratory features are characteristic and helpful in diagnosis, when present. Chromosome fragility is pathognomonic in the diagnosis. However, in some...
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| Glavni autori: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hacettepe University Institute of Child Health
2015-06-01
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| Serija: | The Turkish Journal of Pediatrics |
| Online pristup: | https://turkjpediatr.org/article/view/1238 |
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