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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Xehetasun bibliografikoak
Argitaratua izan da:Genet Med
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group US 2018
Gaiak:
Article
Sarrera elektronikoa: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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