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Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

6 May 2024

Abstract excerpt

PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to dysregulation of the PI3K/AKT/mTOR signalling pathway,...

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PMID: 38792950
DOI: 10.3390/medicina60050767

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