Article
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
American journal of medical genetics. Part A - 15 Nov 2003
Morris Colleen A, Mervis Carolyn B, Hobart Holly H, Gregg Ronald G, Bertrand Jacquelyn, Ensing Gregory J, Sommer Annemarie, Moore Cynthia A, Hopkin Robert J, Spallone Patricia A, Keating Mark T, Osborne Lucy, Kimberley Kendra W, Stock A Dean
Abstract excerpt
Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN. The overlap of the clinical phenotypes of the two conditions (cardiovascular disease and connective tissue abnormalities such as hernias) is due to the effect of...
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