Article
[Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects].
Nederlands tijdschrift voor geneeskunde - 3 Mar 2001
van Hagen J M, Govaerts L C, de Coo I F, Gille J J, Nieuwint A W, Madan K
Abstract excerpt
Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial...
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