Hiroko Fujita

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...