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

doi:10.1038/ng0993-11

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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 a...

Topics

Adult
Alleles
Aortic Valve Stenosis
Arteries
Blotting, Southern
Child
Child, Preschool
Chromosomes, Human, Pair 7
Connective Tissue Diseases
Developmental Disabilities
Elastin
Genes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Humans

In Situ Hybridization, Fluorescence

Intellectual Disability

Pedigree

Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 7693128
DOI: 10.1038/ng0993-11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7693128-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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