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Article

The Williams-Beuren Syndrome-a window into genetic variants leading to the development of cardiovascular disease.

PLoS genetics - 1 Feb 2012

Adams Gregory N, Schmaier Alvin H

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Identifiers

PMID: 22319454
DOI: 10.1371/journal.pgen.1002479
PMCID: PMC3271055

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The Williams-Beuren Syndrome-a window into genetic variants leading to the development of cardiovascular disease.PMID 22319454Read ↗

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Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.Semantic proximity Read ↗

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome.Semantic proximity Read ↗

Pathway analysis identifies novel non-synonymous variants contributing to extreme vascular outcomes in Williams-Beuren syndromeSemantic proximity Read ↗

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.Semantic proximity Read ↗

[Atypical deletions in Williams-Beuren syndrome].Semantic proximity Read ↗

Williams-Beuren syndrome: genes and mechanisms.Semantic proximity Read ↗

Clinical utility gene card for: Williams-Beuren Syndrome [7q11.23].Semantic proximity Read ↗

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Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysisSemantic proximity Read ↗

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