Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib

PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an approved PIK3CA inhibitor in oncology, showed promising results in preclinical models and in...

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Detalles Bibliográficos
Autores principales: Morin, Gabriel, Degrugillier-Chopinet, Caroline, Vincent, Marie, Fraissenon, Antoine, Aubert, Hélène, Chapelle, Célia, Hoguin, Clément, Dubos, François, Catteau, Benoit, Petit, Florence, Mezel, Aurélie, Domanski, Olivia, Herbreteau, Guillaume, Alesandrini, Marie, Boddaert, Nathalie, Boutry, Nathalie, Broissand, Christine, Han, Tianxiang Kevin, Branle, Fabrice, Sarnacki, Sabine, Blanc, Thomas, Guibaud, Laurent, Canaud, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2022
Materias:
Brief Definitive Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8932545/
https://www.ncbi.nlm.nih.gov/pubmed/35080595
http://dx.doi.org/10.1084/jem.20212148

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