Familial Williams-Beuren syndrome
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οΏ½unap, Katrin; Laidre, Piret; Bartsch, Oliver; Rein, Reet; Lipping-Sitska, Mari
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Article
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1998
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John Wiley and Sons
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English
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Williams-Beuren syndrome (WBS) occurs sporadically; however, at least four familial cases of WBS have been described previously. We describe a mother and her son with typical WBS. The diagnosis of WBS in the son was confirmed by molecular cytogenetic analysis fluorescence in situ hybridization. He h