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Diagnostik des Williams-Beuren-Syndroms

✍ Scribed by Rauch, Anita ;Trautmann, U. ;Singer, H. ;Kevekordes, B. ;Dörr, H. G. ;Pfeiffer, R. A.

Publisher
Springer
Year
1997
Tongue
German
Weight
520 KB
Volume
145
Category
Article
ISSN
0026-9298

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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