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...

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Detalles Bibliográficos
Autores principales: Ours, Christopher A., Sapp, Julie C., Hodges, Mia B., de Moya, Allison J., Biesecker, Leslie G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
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

Internet

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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