Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Fanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BR...

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Vydáno v:Biomark Res
Hlavní autoři: Miele, Evelina, Mastronuzzi, Angela, Po, Agnese, Carai, Andrea, Alfano, Vincenzo, Serra, Annalisa, Colafati, Giovanna Stefania, Strocchio, Luisa, Antonelli, Manila, Buttarelli, Francesca Romana, Zani, Massimo, Ferraro, Sergio, Buffone, Amelia, Vacca, Alessandra, Screpanti, Isabella, Giangaspero, Felice, Giannini, Giuseppe, Locatelli, Franco, Ferretti, Elisabetta
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4462002/
https://ncbi.nlm.nih.gov/pubmed/26064523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40364-015-0038-z
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