Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Venot Q;Blanc T;Rabia SH;Berteloot L;Ladraa S;Duong JP;Blanc E;Johnson SC;Hoguin C;Boccara O;Sarnacki S;Boddaert N;Pannier S;Martinez F;Magassa S;Yamaguchi J;Knebelmann B;Merville P;Grenier N;Joly D;Cormier-Daire V;Michot C;Bole-Feysot C;Picard A;Soupre V;Lyonnet S;Sadoine J;Slimani L;Chaussain C;Laroche-Raynaud C;Guibaud L;Broissand C;Amiel J;Legendre C;Terzi F;Canaud G;;
Nature 2018 Vol. 558 pp. -
237
q2018naturetargeted

Abstract

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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