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

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 GTF2IR...

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Autori principali:	Monique L. Howard, Stephen J. Palmer, Kylie M. Taylor, Geoffrey J. Arthurson, Matthew W. Spitzer, Xin Du, Terence Y.C. Pang, Thibault Renoir, Edna C. Hardeman, Anthony J. Hannan
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Elsevier 2012-03-01
Serie:	Neurobiology of Disease
Soggetti:	BEN GTF3 Knockout Mouse model MusTRD1 Neurodevelopmental disorder
Accesso online:	http://www.sciencedirect.com/science/article/pii/S0969996111003858
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