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Article

Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.

European journal of pediatrics - 1 Jun 1995

Kotzot D, Bernasconi F, Brecevic L, Robinson W P, Kiss P, Kosztolanyi G, Lurie I W, Superti-Furga A, Schinzel A

Abstract excerpt

UNLABELLED: To correlate presence or absence of a 7q11 microdeletion with the clinical picture of the Williams-Beuren syndrome (WBS), we investigated 29 patients with a clinical diagnosis of WBS or WBS-like features, aged 1-30 years, using molecular analysis and/or fluorescent in situ hybridization (FISH). Deletions at 7q11 were found in 75% of the patients (22 out of 29). Nine deletions occurred on a paternal,...

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Identifiers

PMID: 7545578
DOI: 10.1007/BF02029360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.PMID 7545578Read ↗

Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.Semantic proximity Read ↗

The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.Semantic proximity Read ↗

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.Semantic proximity Read ↗

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.Semantic proximity Read ↗

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.Semantic proximity Read ↗

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