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Article

TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2013

Navarrete Katherinne, Pedroso Inti, De Jong Simone, Stefansson Hreinn, Steinberg Stacy, Stefansson Kari, Ophoff Roel A, Schalkwyk Leonard C, Collier David A

Abstract excerpt

Common SNPs in the transcription factor 4 (TCF4; ITF2, E2-2, SEF-2) gene, which encodes a basic Helix-Loop-Helix (bHLH) transcription factor, are associated with schizophrenia, conferring a small increase in risk. Other common SNPs in the gene are associated with the common eye disorder Fuch's corneal dystrophy, while rare, mostly de novo inactivating mutations cause Pitt-Hopkins syndrome. In this review, we...

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Identifiers

PMID: 23129290
DOI: 10.1002/ajmg.b.32109

Genes

TCF4

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