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First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma

6 May 2019

Abstract excerpt

Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1. The disease has high morbidity and mortality rates due to the increased risk for patients to develop cancer and progressive overgrowth. A teenage patient with severe PS phenotype developed a pelvic recurrence of low-grade...

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PMID: 31058421
DOI: 10.1002/ajmg.a.61160

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