PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

Jesús Martín-Valbuena Nerea Gestoso-Uzal María Justel-Rodríguez María Isidoro-García Elena Marcos-VadilloSandra Milagros Lorenzo-HernándezM Carla Criado-Muriel Pablo Prieto-Matos

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2024)

PTEN mutations appear with a wide variety of clinical signs and symptoms, sometimes associated with phenotypes which do not fit classical clinical diagnostic criteria for PHTS. We recommend carrying out a genetic study to establish an early diagnosis in children with significant macrocephaly. This facilitates personalized monitoring and enables anticipation of potential PHTS-related complications.

Keyphrases

gene expression
pi k akt
genome wide
dna methylation
depressive symptoms
copy number