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Hum Mol Genet. 1999;8(10):1947-54.

Williams-Beuren syndrome: genes and mechanisms.

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1
Howard Hughes Medical Institute and Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5323, USA. francke@cmgm.stanford.edu

Abstract

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.

PMID:
10469848
[Indexed for MEDLINE]
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