Population-based Characterization of PTEN Hamartoma Tumor Syndrome
Gideon Idumah, Chloe Bautista, Lin Li, Francesca Luzzi, Joshua Arbesman, Lamis Yehia, Ying Ni
The paper identifies 55 individuals with pathogenic PTEN variants in a population-based cohort, revealing higher prevalence and broader clinical features of PHTS than previously recognized.
Communications Medicine · Oct 1, 2026Peer-reviewedGenetic & Genomic Medicine