Article

No correlations between genotype and neurodevelopmental or cancer phenotypes in a cohort of PTEN Hamartoma Tumour Syndrome (PHTS) patients

2026-04-23

Abstract excerpt

<title>Abstract</title> <p>PTEN hamartoma tumour syndrome (PHTS) is a clinically heterogeneous disorder characterised by benign and malignant proliferative lesions, vascular malformations, and neurodevelopmental disorders (NDD). We analysed clinical and molecular features of 167 individuals from 117 unrelated Italian families with PHTS to explore genotype–phenotype correlations, with special focus on neurodevelo...

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Literature Corpus work: 4e77d86c-4b86-59fd-b89f-9c34e707a1b4
DOI: 10.21203/rs.3.rs-9318154/v1

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