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Article

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

The New England journal of medicine - 20 Oct 2005

Somerville Martin J, Mervis Carolyn B, Young Edwin J, Seo Eul-Ju, del Campo Miguel, Bamforth Stephen, Peregrine Ella, Loo Wayne, Lilley Margaret, Pérez-Jurado Luis A, Morris Colleen A, Scherer Stephen W, Osborne Lucy R

Abstract excerpt

The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a...

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Identifiers

PMID: 16236740
DOI: 10.1056/NEJMoa051962
PMCID: PMC2893213

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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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