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Article

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Genome research - 1 May 2008

Cuscó Ivon, Corominas Roser, Bayés Mònica, Flores Raquel, Rivera-Brugués Núria, Campuzano Victoria, Pérez-Jurado Luis A

Abstract excerpt

Large copy number variants (CNVs) have been recently found as structural polymorphisms of the human genome of still unknown biological significance. CNVs are significantly enriched in regions with segmental duplications or low-copy repeats (LCRs). Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of contiguous genes at 7q11.23 mediated by nonallelic homologous...

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Identifiers

PMID: 18292220
DOI: 10.1101/gr.073197.107
PMCID: PMC2336808

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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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