Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor s...

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Publicat a:Genet Med
Autors principals: Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K., Biesecker, Leslie G.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752269/
https://ncbi.nlm.nih.gov/pubmed/30270358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0297-9
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