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Article

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

American journal of human genetics - 8 Jun 2012

Vandeweyer Geert, Van der Aa Nathalie, Reyniers Edwin, Kooy R Frank

Abstract excerpt

Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome...

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Source

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Identifiers

PMID: 22608712
DOI: 10.1016/j.ajhg.2012.04.020
PMCID: PMC3370266

Genes

CLIP2
RFC2

Provenance

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.

Related research

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The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.PMID 22608712Read ↗

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.Semantic proximity Read ↗

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.Semantic proximity Read ↗

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.Semantic proximity Read ↗

Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice.Semantic proximity Read ↗

Essential role of the N-terminal region of TFII-I in viability and behavior.Semantic proximity Read ↗

<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionSemantic proximity Read ↗

Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.Semantic proximity Read ↗

TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.Semantic proximity Read ↗

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.Semantic proximity Read ↗

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patientsSemantic proximity Read ↗

Williams syndrome: from genotype through to the cognitive phenotype.Semantic proximity Read ↗

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