Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Parker, Victoria; M. Keppler‐Noreuil, Kim; Faivre, Laurence; Luu, Maxime; L. Oden, Neal; De Silva, Leena; C. Sapp, Julie; Andrews, Katrina; Bardou, Marc; Y. Chen, Kong; N. Darling, Thomas; Gautier, Élodie; R. Goldspiel, Barry; Hadj‐Rabia, S.; Harris, Julie; Kounidas, Georgios; Kumar, Parag; J. Lindhurst, Marjorie; Loffroy, Romaric; Martin, Ludovic; Phan, Alice; I. Rother, Kristina; C. Widemann, Brigitte; L. Wolters, Pamela; Coubes, Christine; Pinson, Lucile; Willems, Marjolaine; Vincent‐Delorme, Catherine; Vabres, P.; K. Semple, Robert; G. Biesecker, Leslie

doi:10.1038/s41436-018-0297-9

Public

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Published in Genetics in Medicine • Sep 26, 2018

Authors:

Victoria Parker

Kim M. Keppler‐Noreuil

Laurence Faivre

Abstract

PURPOSE: PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants. PIK3CA encodes the p110α catalytic subunit of phosphatidylinositol-3-kinase (PI3K), a critical transducer of growth factor s...

Subject

Sirolimus

Medicine

Broad spectrum

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