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Article

Mutational mechanisms of Williams-Beuren syndrome deletions.

American journal of human genetics - 1 Jul 2003

Bayés Mònica, Magano Luis F, Rivera Núria, Flores Raquel, Pérez Jurado Luis A

Abstract excerpt

Williams-Beuren syndrome (WBS) is a segmental aneusomy syndrome that results from a heterozygous deletion of contiguous genes at 7q11.23. Three large region-specific low-copy repeat elements (LCRs), composed of different blocks (A, B, and C), flank the WBS deletion interval and are thought to predispose to misalignment and unequal crossing-over, causing the deletions. In this study, we have determined the exact...

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Source

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Identifiers

PMID: 12796854
DOI: 10.1086/376565
PMCID: PMC1180575

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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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