Williams Beuren syndrome
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- Discussion Williams-Beuren syndrome is a rare genetic condition, with an incidence of 1:20,000 live births and sporadic occurrence in most cases, despite reports of familial recurrence with dominant autosomal inheritance and variable penetrance 8.
- Williams syndrome is the more common US name, while Williams-Beuren syndrome is the more commonly used term in Europe.
- deVascular disease in Williams-Beuren syndrome is based on an elastin arteriopathy which may cause stenoses in small and great vessels.
- Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7.
- 2 Google OMIM Orphanet PubMedWilliams-Beuren syndrome *Gene map locus 7q11.
- 1590/S0066-782X2003001300003 Curriculum ScienTI How to cite this article ORIGINAL ARTICLE Williams-Beuren syndrome.
- 920Pages416Volumes1IllustrationsYesWeight (grammes)636Published InBaltimore, MD Medical > Genetics Williams-Beuren Syndrome Research, Evaluation, and Treatment Morris, Colleen A.
- Williams-Beuren Syndrome: Research, Evaluation and Treatment Edited by Colleen Morris, M.
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