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Article

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Nature genetics - 1 Sept 1993

Ewart A K, Morris C A, Atkinson D, Jin W, Sternes K, Spallone P, Stock A D, Leppert M, Keating M T

Abstract excerpt

Williams syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature of WS, supravalvular aortic stenosis, is also a distinct autosomal dominant disorder caused by mutations in the elastin gene. In this study, we identified hemizygosity at the elastin locus using genetic analyses in four familial and five sporadic cases of WS. Fluorescent in situ...

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PMID: 7693128
DOI: 10.1038/ng0993-11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.PMID 7693128Read ↗

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Elastin mutation and cardiac disease.Semantic proximity Read ↗

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.Semantic proximity Read ↗

A Case Report of in Utero Williams Syndrome Arterial Malformation.Semantic proximity Read ↗

Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.Semantic proximity Read ↗

Elastin-driven genetic diseases.Semantic proximity Read ↗

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.Semantic proximity Read ↗

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosisSemantic proximity Read ↗

Multi-species sequence comparison reveals dynamic evolution of the elastin gene that has involved purifying selection and lineage-specific insertions/deletions.Semantic proximity Read ↗

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