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Williams-Beuren syndrome (WBS, MIM No. 194050) is a contiguous gene deletion syndrome that was described independently by Williams et al. (1961) in patients with supravalvular aortic stenosis, growth retardation and an unusual facial appearance (Williams et al., 1961) and by Beuren et al. (1962) in patients having the same features as well as dental anomalies and friendly personality (Beuren et al., 1962).

Defining the Deletion Size in Williams-Beuren Syndrome by Fluorescent In Situ Hybridization with Bacterial Artificial Chromosomes