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Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report

Fanconi anemia (FA) is a rare disorder characterized by multiple congenital malformations, progressive bone marrow failure and susceptibility to malignancies. Biallelic mutations in the breast cancer 2, early onset (BRCA2) gene are responsible for the FA-D1 subgroup, which accounts for ~3% of all th...

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Detalles Bibliográficos
Publicado en:Oncol Lett
Autores principales: LOIZIDOU, MARIA A., HADJISAVVAS, ANDREAS, TANTELES, GEORGE A., SPANOU-ARISTIDOU, ELENA, KYRIACOU, KYRIACOS, CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA
Formato: Artigo
Lenguaje:Inglês
Publicado: D.A. Spandidos 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4727152/
https://ncbi.nlm.nih.gov/pubmed/26834852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/ol.2015.3852
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