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Article

PTEN-opathies: from biological insights to evidence-based precision medicine

6 Jan 2019

Abstract excerpt

The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations cause PTEN hamartoma tumor syndrome (PHTS), featuring various benign and malignant tumors, as well as neurodevelopmental disorders such as autism spectrum disorder. Germline and somatic mosaic mutations in genes encoding components of the PI3K/AKT/mTOR pathway...

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PMID: 30614812
DOI: 10.1172/jci121277

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