Paired DNA/RNA testing uncovers a deep intronic PTEN pathogenic variant associated with clinical Cowden Syndrome: A case report

Specialty Areas:
Date: November 12, 2025
Authors:
Michael J. Hall, Dong Won Kim, Devang Namjoshi, Michelle McSweeny, Marcy E. Richardson, Ashley PL Marsh, Felicia Hernandez, Demitrios Dedousis
Journal: Frontiers in Oncology