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Article

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Nature genetics - 1 Nov 2001

Osborne L R, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui L C, Scherer S W

Abstract excerpt

Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably mediated by the highly homologous DNA that flanks the commonly deleted region. Here, we report the use of interphase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11685205
DOI: 10.1038/ng753
PMCID: PMC2889916

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.PMID 11685205Read ↗

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