Targeted therapy in patients with PIK3CA-related overgrowth syndrome

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain–of–function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndrome...

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Udgivet i:Nature
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7610773/
https://ncbi.nlm.nih.gov/pubmed/29899452
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-018-0217-9
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