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

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jun 2024

Martín-Valbuena Jesús, Gestoso-Uzal Nerea, Justel-Rodríguez María, Isidoro-García María, Marcos-Vadillo Elena, Lorenzo-Hernández Sandra Milagros, Criado-Muriel M Carla, Prieto-Matos Pablo

Abstract excerpt

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:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38407606
DOI: 10.1007/s00381-024-06301-2
PMCID: PMC11111493

Genes

PTEN
C2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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