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

• Authors: Michael J Hall; Dong Won Kim; Devang Namjoshi; Michelle McSweeny; Marcy E Richardson; Ashley Pl Marsh; Felicia Hernandez; Demitrios Dedousis
• Collaborators: Fox Chase Cancer Center; St Vincent's University Hospital
• Journal: Frontiers in Oncology
• Date: 2025 - Oct