Himeji Red Cross Hospital

Whole exome sequencing and transcript analysis of a PTEN splice-site variant in a child with PTEN hamartoma tumor syndrome: a case report

Introduction PTEN hamartoma tumor syndrome (PHTS) is a hereditary tumor syndrome characterized by macrocephaly, neurodevelopmental disorders, mucocutaneous lesions, and predisposition to tumors. In childhood, the characteristic mucocutaneous and tumor-related manifestations may n...

Response to the Letter Regarding “Methodological Considerations in Real‐World Evaluation of Durvalumab Plus Tremelimumab for Unresectable Hepatocellular Carcinoma”

Data supporting the findings of this study are available from the corresponding author upon reasonable request, subject to institutional review board approval and execution of appropriate data sharing agreements.