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
Williams-Beuren syndrome 35 years after the diagnosis in one of the first Beuren patients
β Scribed by Pankau, Rainer; Partsch, Carl-Joachim; Gosch, Angela; Siebert, Reiner; Schneider, Manfred; Schneppenheim, Reinhard; Winter, Martin; Wessel, Armin
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 17 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000410)91:4<322::aid-ajmg15>3.0.co;2-q
No coin nor oath required. For personal study only.
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