Glaucia Suzanna Jong-A-Liem, Talita Helena Martins Sarti, Mariusi Glasenapp Dos Santos, Luciano Marcus Tirotti Giacon, Raphael Wuo-Silva, Alex Machado Baeta, José Maria de Campos Filho, Feres Chaddad-Neto
INTRODUCTION: Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies...
2024: Frontiers in Neurology