Targeted therapy in patients with PIK3CA-related overgrowth syndrome - Nature
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Targeted therapy in patients with PIK3CA-related overgrowth syndrome - Nature

Venot, Quitterie;Blanc, Thomas;Rabia, Smail Hadj;Berteloot, Laureline;Ladraa, Sophia;Duong, Jean-Paul;Blanc, Estelle;Johnson, Simon C.;Hoguin, Clément;Boccara, Olivia;Sarnacki, Sabine;Boddaert, Nathalie;Pannier, Stephanie;Martinez, Frank;Magassa, Sato;Yamaguchi, Junna;Knebelmann, Bertrand;Merville, Pierre;Grenier, Nicolas;Joly, Dominique;Cormier-Daire, Valérie;Michot, Caroline;Bole-Feysot, Christine;Picard, Arnaud;Soupre, Véronique;Lyonnet, Stanislas;Sadoine, Jeremy;Slimani, Lotfi;Chaussain, Catherine;Laroche-Raynaud, Cécile;Guibaud, Laurent;Broissand, Christine;Amiel, Jeanne;Legendre, Christophe;Terzi, Fabiola;Canaud, Guillaume;Venot, Quitterie;Blanc, Thomas;Rabia, Smail Hadj;Berteloot, Laureline;Ladraa, Sophia;Duong, Jean-Paul;Blanc, Estelle;Johnson, Simon C.;Hoguin, Clément;Boccara, Olivia;Sarnacki, Sabine;Boddaert, Nathalie;Pannier, Stephanie;Martinez, Frank;Magassa, Sato;Yamaguchi, Junna;Knebelmann, Bertrand;Merville, Pierre;Grenier, Nicolas;Joly, Dominique;Cormier-Daire, Valérie;Michot, Caroline;Bole-Feysot, Christine;Picard, Arnaud;Soupre, Véronique;Lyonnet, Stanislas;Sadoine, Jeremy;Slimani, Lotfi;Chaussain, Catherine;Laroche-Raynaud, Cécile;Guibaud, Laurent;Broissand, Christine;Amiel, Jeanne;Legendre, Christophe;Terzi, Fabiola;Canaud, Guillaume;
Nature 2018 Vol. 558 pp. 540-546
139
quitterie2018naturetargeted

Abstract

A PI3KCA inhibitor reverses symptoms in a mouse model of PROS/CLOVES syndrome, which results from gain-of-function mutations in PI3KCA, and produces improvements in patients with PROS/CLOVES syndrome.

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translational research molecularly targeted therapy

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DOI:
doi:10.1038/s41586-018-0217-9
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https://doi.org/10.1038/s41586-018-0217-9

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