Ontology highlight
ABSTRACT:
SUBMITTER: Palmer SJ
PROVIDER: S-EPMC2836076 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Palmer Stephen J SJ Santucci Nicole N Widagdo Jocelyn J Bontempo Sara J SJ Taylor Kylie M KM Tay Enoch S E ES Hook Jeff J Lemckert Frances F Gunning Peter W PW Hardeman Edna C EC
The Journal of biological chemistry 20091209 7
The GTF2IRD1 gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have ...[more]