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Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome
Proteus syndrome is a rare overgrowth disorder caused by postzygotic activating variants in AKT1. Individuals may develop a range of skin, bone, and soft tissue overgrowth leading to functional impairment and disfigurement. Therapy for this disorder is limited to supportive care and surgical interve...
Autores principales: | Ours, Christopher A., Sapp, Julie C., Hodges, Mia B., de Moya, Allison J., Biesecker, Leslie G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751418/ https://www.ncbi.nlm.nih.gov/pubmed/34649967 http://dx.doi.org/10.1101/mcs.a006134 |
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