Open access
Jul 2026
Coexisting PTEN and SDHB Mutations in a Pediatric Patient with PTEN Hamartoma Tumor Syndrome: a case report
This case expands the molecular spectrum of PHTS by describing the coexistence of pathogenic PTEN and functionally supported SDHB variants, and underscores the importance of functional variant interpretation and genotype-informed longitudinal surveillance in rare genetic disorders.
Ya-Qin Zhang, Sooyeon Lee, Justin P. Annes et al.
· Frontiers in Pediatrics · 0 citations