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Article

The contribution of GTF2I haploinsufficiency to Williams syndrome.

Molecular and cellular probes - 1 Aug 2018

Chailangkarn Thanathom, Noree Chalongrat, Muotri Alysson R

Abstract excerpt

Williams syndrome (WS) is a neurodevelopmental disorder involving hemideletion of as many as 26-28 genes, resulting in a constellation of unique physical, cognitive and behavior phenotypes. The haploinsufficiency effect of each gene has been studied and correlated with phenotype(s) using several models including WS subjects, animal models, and peripheral cell lines. However, links for most of the genes to WS...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29305905
DOI: 10.1016/j.mcp.2017.12.005
PMCID: PMC6034994

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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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