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Article

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

BioMed research international - 1 Jan 2015

Honjo Rachel Sayuri, Dutra Roberta Lelis, Furusawa Erika Arai, Zanardo Evelin Aline, Costa Larissa Sampaio de Athayde, Kulikowski Leslie Domenici, Bertola Debora Romeo, Kim Chong Ae

Abstract excerpt

Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe...

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Identifiers

PMID: 26090456
DOI: 10.1155/2015/903175
PMCID: PMC4450269

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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