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Familial Williams-Beuren syndrome showing varying clinical expression

✍ Scribed by Pankau, Rainer ;Siebert, Reiner ;Kautza, Monika ;Schneppenheim, Reinhard ;Gosch, Angela ;Wessel, Armin ;Partsch, Carl-Joachim

Book ID
101316491
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
206 KB
Volume
98
Category
Article
ISSN
0148-7299

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Familial Williams-Beuren syndrome
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✍ οΏ½unap, Katrin; Laidre, Piret; Bartsch, Oliver; Rein, Reet; Lipping-Sitska, Mari πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 2 views

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