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Article

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

European journal of human genetics : EJHG - 1 Jan 2010

Ferrero Giovanni Battista, Howald Cédric, Micale Lucia, Biamino Elisa, Augello Bartolomeo, Fusco Carmela, Turturo Maria Giuseppina, Forzano Serena, Reymond Alexandre, Merla Giuseppe

Abstract excerpt

Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile...

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Source

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Identifiers

PMID: 19568270
DOI: 10.1038/ejhg.2009.108
PMCID: PMC2987159

Genes

CLIP2
ELN
LIMK1

Provenance

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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