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

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

Journal article

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

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

Neurobiology of Disease | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2012

DOI: 10.1016/j.nbd.2011.12.010

University of Melbourne Researchers

Thibault Renoir Author Florey Department of Neuroscience and Mental Health

Terence Pang Author Florey Department of Neuroscience and Mental Health

Anthony Hannan Author Florey Department of Neuroscience and Mental Health

Grants

Funding Acknowledgements

This research was supported by NHMRC Project Grant funding (ECH and AJH) and an ARC Future Fellowship (AJH). The Avisoft recording and analysis equipment was purchased with funding from the Scobie & Claire McKinnon Trust. The c-fos antibody was a kind gift from Professor Michael McKinley. The authors would like to thank Neil Cook for performing initial audible recordings and Robert Gration and Anne Wiltshire for their assistance with initial ultrasound recordings. We also thank Drs Mark Murphy and Julian Heng for useful feedback on a previous version of the manuscript. This work was also supported by the Victorian Government through the Operational Infrastructure Scheme.