Article
Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Hirota Hamao, Matsuoka Rumiko, Chen Xiao-Ning, Salandanan Lora S, Lincoln Alan, Rose Fredric E, Sunahara Mariko, Osawa Makiko, Bellugi Ursula, Korenberg Julie R
Abstract excerpt
PURPOSE: To identify the relationship between specific genes and phenotypic features of Williams syndrome. METHODS: Subjects were selected based on their deletion status determined by fluorescence in situ hybridization using a panel of 24 BACs and cosmids spanning the region commonly deleted and single gene analysis using Southern blotting. From the cohort of subjects, three had atypical deletions. Physical...
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