PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients
Jesús Martín-Valbuena,
Nerea Gestoso-Uzal,
María Justel-Rodríguez
et al.
Abstract:Objective
The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).
Patients and methods
Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history.
Results
Regarding c… Show more
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