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Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092)
A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the AKT1 c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilater...
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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6996520/ https://ncbi.nlm.nih.gov/pubmed/32014856 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004549 |
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