PTEN-opathies: from biological insights to evidence-based precision medicine
PTEN-opathies: from biological insights to evidence-based precision medicine
About this item
Full title
Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
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Publication information
Publisher
United States: American Society for Clinical Investigation
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Scope and Contents
Contents
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 mu...
Alternative Titles
Full title
PTEN-opathies: from biological insights to evidence-based precision medicine
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6355220
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6355220
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI121277
