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Article

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

Journal of medical genetics - 1 Jun 1999

Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne L R, Digilio M C, Giannotti A, Dallapiccola B

Abstract excerpt

We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 10874638
PMCID: PMC1734394

Genes

FZD3

Provenance

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.

Related research

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Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.PMID 10874638Read ↗

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.Semantic proximity Read ↗

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

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[Atypical deletions in Williams-Beuren syndrome].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 ↗

Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.Semantic proximity Read ↗

Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.Semantic proximity Read ↗

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.Semantic proximity Read ↗

Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype.Semantic proximity Read ↗

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