Article
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Nature - 1 Jun 2018
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
Abstract excerpt
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 syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal...
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