Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

BACKGROUND: PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like fibroadipose overgrowth (FAO), megalencephaly-capillary malformation (MCAP) syndrome, congenital lipomatous asymmetric...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Loconte, Daria C., Grossi, Valentina, Bozzao, Cristina, Forte, Giovanna, Bagnulo, Rosanna, Stella, Alessandro, Lastella, Patrizia, Cutrone, Mario, Benedicenti, Francesco, Susca, Francesco C., Patruno, Margherita, Varvara, Dora, Germani, Aldo, Chessa, Luciana, Laforgia, Nicola, Tenconi, Romano, Simone, Cristiano, Resta, Nicoletta
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4411002/
https://ncbi.nlm.nih.gov/pubmed/25915946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0123092
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