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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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Biesecker, Leslie G., Edwards, Matthew, O'Donnell, Sheridan, Doherty, Paula, MacDougall, Thomas, Tith, Kate, Kazakin, Julia, Schwartz, Brian
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2020
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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