Case Report: Everolimus reduced bone turnover markers but showed no clinical benefit in a patient with severe progressive osseous heteroplasia

• Главные авторы: M. Cebey-López (Автор), M. J. Currás-Tuala (Автор), J. Gómez-Rial (Автор), I. Rivero-Calle (Автор), J. Pardo-Seco (Автор), R. Mendez-Gallart (Автор), S. Pischedda (Автор), A. Gómez-Carballa (Автор), R. Barral-Arca (Автор), A. Justicia-Grande (Автор), S. Viz-Lasheras (Автор), C. Rodríguez-Tenreiro (Автор), R. Gómez (Автор), A. Salas (Автор), F. Martinón-Torres (Автор)
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• Опубликовано: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Предметы: article
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BackgroundProgressive osseous heteroplasia (POH) is an ultrarare genetic disorder characterized by an inactivating mutation in the GNAS gene that causes heterotopic ossification. Inhibition of the mammalian target of the rapamycin (mTOR) signalling pathway has been proposed as a therapy for progress...