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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2019
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Article
Online Zugang: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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