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[Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].

Klinische Padiatrie - 1 Jan 2000

von Beust G, Laccone F A, del Pilar Andrino M, Wessel A

Abstract excerpt

BACKGROUND: The suspected diagnosis of Williams-Beuren syndrome (WBS), which is a retardation syndrome with great clinical variability, was cause for comparison of molecular genetic, molecular cytogenetic analysis to clinical symptoms. The results of the genetical analysis of a microdeletion of the elastin gene region on chromosome 7 were compared to the clinical symptoms. Are there any differences between...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11190824
DOI: 10.1055/s-2000-9605

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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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[Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].PMID 11190824Read ↗

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