Kandai Nozu

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...

Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes

Abstract Background Heterozygous pathogenic variants in COL4A3 or COL4A4 are relatively common and associated with a broad clinical spectrum. However, nomenclature and risk stratification remain unsettled. We aimed to investigate temporal diagnostic trends and clinical features o...