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Article

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

European journal of human genetics : EJHG - 1 May 2012

van Eeghen Agnies M, Black Margaux E, Pulsifer Margaret B, Kwiatkowski David J, Thiele Elizabeth A

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutations, epilepsy severity and tuber burden. The bimodal intelligence distributio...

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Source

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Identifiers

PMID: 22189265
DOI: 10.1038/ejhg.2011.241
PMCID: PMC3330219

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22189265-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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