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Article

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

American journal of medical genetics. Part A - 1 Mar 2013

Delio Maria, Pope Kathleen, Wang Tao, Samanich Joy, Haldeman-Englert Chad R, Kaplan Paige, Shaikh Tamim H, Cai Jinlu, Marion Robert W, Morrow Bernice E, Babcock Melanie

Abstract excerpt

Haploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular aortic stenosis (SVAS) and other arteriopathies in patients with Williams-Beuren syndrome (WBS). These defects occur with variable penetrance and expressivity, but the basis of this is unknown. To determine whether DNA variations in ELN could serve as genetic modifiers, we sequenced the 33 exons and immediately surrounding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23401415
DOI: 10.1002/ajmg.a.35784

Genes

ELN
MAF

Variants

Provenance

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