To identify genes important for human cognitive development, we studied Williams
syndrome (WS), a developmental disorder that includes poor visuospatial constructive …

Williams syndrome (WMS) is a most compelling model of human cognition, of human
genome organization, and of evolution. Due to a deletion in chromosome band 7q11. 23 …

Williams syndrome (WS) is a developmental disorder with variable phenotypic expression
associated, in most cases, with a hemizygous deletion of part of chromosomal band 7q11 …

WBS is associated with a recognizable facies, including stellate irides, flat nasal bridge,
short up-turned nose with anteverted nostrils, long philtrum, full lips and lower cheeks, and a …

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency
for genes in a 2-cM region of chromosome band 7q11. 23. With the exception of vascular …

Despite the known causality of copy-number variations (CNVs) to human
neurodevelopmental disorders, the mechanisms behind each gene's contribution to the …

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multisystemic
manifestations caused by heterozygosity for a partial deletion of chromosome band 7q11 …

Objective: The aim of this study was to sum up and characterize all Williams-Beuren
syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its …

Velocardiofacial and DiGeorge syndromes, also known as 22q11. 2 deletion syndrome
(22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11. 2 …

Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype.
Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may …