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A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report
BACKGROUND: Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the DNA repair pathway, mainly FANCA genes, have been identified to be affected in...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617641/ https://www.ncbi.nlm.nih.gov/pubmed/31288759 http://dx.doi.org/10.1186/s12881-019-0855-2 |