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Article

Williams-Beuren syndrome: diagnosis by polymorphic markers.

Genetic testing and molecular biomarkers - 1 Apr 2010

Sbruzzi Ivanete C, Pereira Alexandre C, Vasconcelos Beatriz, Honjo Raquel S, Krieger José E, Kim Chong A

Abstract excerpt

Williams-Beuren syndrome (WBS) is caused by a 1-2 Mb microdeletion in the region 7q11.23. The clinical presentation may vary and most of the connective tissue abnormalities can be explained by the haploinsufficiency of the ELN gene in this region. The purpose of this study was to determine the value of a polymerase chain reaction assay that uses three polymorphic markers to detect the microdeletion and compare...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20136526
DOI: 10.1089/gtmb.2009.0120

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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