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Article

Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.

Neurobiology of disease - 1 Mar 2012

Howard Monique L, Palmer Stephen J, Taylor Kylie M, Arthurson Geoffrey J, Spitzer Matthew W, Du Xin, Pang Terence Y C, Renoir Thibault, Hardeman Edna C, Hannan Anthony J

Abstract excerpt

Insufficiency of the transcriptional regulator GTF2IRD1 has become a strong potential explanation for some of the major characteristic features of the neurodevelopmental disorder Williams-Beuren syndrome (WBS). Genotype/phenotype correlations in humans indicate that the hemizygous loss of the GTF2IRD1 gene and an adjacent paralogue, GTF2I, play crucial roles in the neurocognitive and craniofacial aspects of the...

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PMID: 22198572
DOI: 10.1016/j.nbd.2011.12.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.PMID 22198572Read ↗

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<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionSemantic proximity Read ↗

The contribution of GTF2I haploinsufficiency to Williams syndrome.Semantic proximity Read ↗

Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.Semantic proximity Read ↗

Functions of <i>Gtf2i</i> and <i>Gtf2ird1</i> in the developing brain: transcription, DNA-binding, and long term behavioral consequencesSemantic proximity Read ↗

A human forebrain organoid model reveals the essential function of GTF2IRD1-TTR-ERK axis for the neurodevelopmental deficits of Williams SyndromeSemantic proximity Read ↗

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.Semantic proximity Read ↗

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Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.Semantic proximity Read ↗

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