Article
Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.
Pediatric radiology - 1 Jun 2024
Martinez-Rios Claudia, De Leon Benedetti Laura S, Tierradentro-Garcia Luis Octavio, Kilicarslan Ozge Aksel, Caro-Dominguez Pablo, Otero Hansel J
Abstract excerpt
BACKGROUND: PTEN-related hamartoma tumor syndrome results from a mutation in the PTEN gene located at 10q23.31. This syndrome represents a spectrum of different phenotypes of variable expressions, now recognized as part of the same condition. Patients with this mutation have an increased risk of developing a wide range of findings, including malignancies. Although widely described in adults, there are no large...
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