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pro vyhledávání: '"Dora Ferrari"'
Autor:
Lian Hu, Dora Ferrari, Julie C. Sapp, Ashlyn Gruber, Leslie G. Biesecker, Jean Zhao, Brian Schwartz
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare dise
Autor:
Dora Ferrari, Yi Yu, Ronald E. Savage, Marjorie J. Lindhurst, Miranda R. Yourick, Leslie G. Biesecker
Publikováno v:
Scientific Reports
A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome. ARQ 092 is an allosteric pan-AKT inhibitor under devel