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Article

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

European journal of human genetics : EJHG - 1 Jun 2002

Duba Hans-Christoph, Doll Andreas, Neyer Michael, Erdel Martin, Mann Christian, Hammerer Ignaz, Utermann Gerd, Grzeschik Karl-Heinz

Abstract excerpt

The Williams-Beuren syndrome (WBS) is a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS), a so-called elfin face, a hoarse voice, and a specific cognitive phenotype. Most WBS patients have a >1 Mb deletion on one of their chromosomes 7 in q11 but except for elastin, whose haploinsufficiency causes the cardiovascular malformations, it is unknown which...

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Share to Chromosomes, Human, Pair 16
Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cloning, Molecular

Share to Elastin

Share to In Situ Hybridization, Fluorescence

Share to Physical Chromosome Mapping

Share to Translocation, Genetic

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Identifiers

PMID: 12080386
DOI: 10.1038/sj.ejhg.5200812

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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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