Journal Article

Williams-Beuren Syndrome: Genes and Mechanisms

Uta Francke

in Human Molecular Genetics

Volume 8, issue 10, pages 1947-1954
Published in print January 1999 | ISSN: 0964-6906
Published online January 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.10.1947
Williams-Beuren Syndrome: Genes and Mechanisms

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Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of ∼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.

Journal Article.  7213 words.  Illustrated.

Subjects: Genetics and Genomics

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