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Article

Subependymal giant-cell astrocytomas in the absence of tuberous sclerosis.

Journal of neurosurgery. Pediatrics - 1 Sept 2023

Reynolds Rebecca A, Aum Diane J, Gonzalez-Gomez Ignacio, Wong Michael, Roberts Kaleigh, Dahiya Sonika, Rodriguez Luis F, Roland Jarod L, Smyth Matthew D

Abstract excerpt

OBJECTIVE: Tuberous sclerosis is a rare genetic condition caused by TSC1 or TSC2 mutations that can be inherited, sporadic, or the result of somatic mosaicism. Subependymal giant-cell astrocytoma (SEGA) is a major diagnostic feature of tuberous sclerosis complex (TSC). This study aimed to present a series of cases in which a pathological diagnosis of SEGA was not diagnostic of tuberous sclerosis. METHODS: The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37327147
DOI: 10.3171/2023.5.PEDS23108

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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