The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease
Year: 2012
Type: article
Abstract: Williams-Beuren Syndrome (WBS) arises when there is a genomic microdeletion at human chromosome 7q11.23 (Mouse 5G2), resulting in various cardiovascular, developmental, metabolic, and mental disorders [1]. Cardiovascular complications from WBS are a frequent cause of death. The deleted region is predisposed to non-allelic homologous recombination (NAHR) due to the presence of repetitive DNA regions called segmental duplications. WBS can result in deletions of up to 1.83 Mb in a region containing roughly 28 genes that includes the gene ELN encoding the tissue structural protein elastin [2].
Source: PLoS Genetics
Authors: Gregory N. Adams, Alvin H. Schmaier
Institution: Case Western Reserve University
Language: English
Topic: Williams Syndrome Research
Subfield: Developmental Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,043
OpenAlex ID: W1973432602