Targeted therapy in patients with PIK3CA-related overgrowth syndrome

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ID: 273007
2018
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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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Authors 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;;
Journal Nature
Year 2018
DOI
DOI not found
URL
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=29899452
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE Mice animals humans pubmed abstract nih national institutes of health national library of medicine research support non-u.s. gov't adult female male Disease Models Animal case reports Child Clinical Trial phenotype syndrome hela cells heart failure / complications heart failure / drug therapy pmid:29899452 pmc7610773 doi:10.1038/s41586-018-0217-9 quitterie venot thomas blanc guillaume canaud class i phosphatidylinositol 3-kinases / antagonists & inhibitors* class i phosphatidylinositol 3-kinases / metabolism* lipoma / drug therapy* lipoma / enzymology* molecular targeted therapy* musculoskeletal abnormalities / drug therapy* musculoskeletal abnormalities / enzymology* nevus / drug therapy* nevus / enzymology* scoliosis / complications scoliosis / drug therapy sirolimus / therapeutic use thiazoles / therapeutic use* vascular malformations / drug therapy* vascular malformations / enzymology* vascular neoplasms / complications vascular neoplasms / drug therapy

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