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Article

A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.

American journal of medical genetics. Part A - 1 Aug 2017

Wojcik Monica H, Carmichael Nikkola, Bieber Frederick R, Wiener Daniel C, Madan Rachna, Pober Barbara R, Raby Benjamin A

Abstract excerpt

Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome typically presenting with intellectual disability, a unique personality, a characteristic facial appearance, and cardiovascular disease. Several clinical features of WBS are thought to be due to haploinsufficiency of elastin (ELN), as the ELN locus is included within the WBS critical region at 7q11.23. Emphysema, a disease attributed to...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 7

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Elastin

Share to Genetic Variation

Share to Haploinsufficiency

Share to In Situ Hybridization, Fluorescence

Share to Pulmonary Emphysema

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Source

Open in PubMed Open full text

Identifiers

PMID: 28574231
DOI: 10.1002/ajmg.a.38289
PMCID: PMC5509496

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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