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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2012-03-01
Series:Neurobiology of Disease
Subjects:
BEN
GTF3
Knockout
Mouse model
MusTRD1
Neurodevelopmental disorder
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996111003858

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http://www.sciencedirect.com/science/article/pii/S0969996111003858

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