The clinical and phenotypic spectrum of PTEN hamartoma tumor syndrome: a retrospective cohort study
PTEN Hamartoma Tumor Syndrome (PHTS) is a rare condition characterized by a complex phenotype including gastrointestinal hamartomas and increased lifetime malignancy risk. To characterize the clinical phenotype, genetic landscape, and spectrum of malignancies within a large cohort of adult PHTS carriers. A retrospectiv...