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Article

Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: prevalence on MRI in relation to gene mutation.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Feb 2013

Michelozzi Caterina, Di Leo Giovanni, Galli Federica, Silva Barbosa Fabiane, Labriola Francesca, Sardanelli Francesco, Cornalba Gianpaolo

Abstract excerpt

PURPOSE: The purpose of this study was to estimate the association among the presence of subependymal nodules (SENs), subependymal giant cell tumours (SGCTs) and gene mutation in tuberous sclerosis complex (TSC) patients. METHODS: Clinical records and images of 81 TSC patients were retrospectively reviewed by two neuroradiologists in consensus. All patients were assessed for gene mutations and were categorized as...

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Identifiers

PMID: 22936080
DOI: 10.1007/s00381-012-1892-8

Genes

TSC2
NMI
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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