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

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