Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome

Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. There are no effective treatments for Proteus syndrome. Miransertib is an AKT1 inhibitor that, prior to this study, has been evaluated only in adult oncology trials. We designed a n...

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Foilsithe in:Am J Hum Genet
Main Authors: Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Darling, Thomas N., Burton-Akright, Jasmine, Bagheri, Mohammadhadi, Dombi, Eva, Gruber, Ashlyn, Jarosinski, Paul F., Martin, Staci, Nathan, Neera, Paul, Scott M., Savage, Ronald E., Wolters, Pamela L., Schwartz, Brian, Widemann, Brigitte C., Biesecker, Leslie G.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2019
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6407523/
https://ncbi.nlm.nih.gov/pubmed/30803705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.01.015
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