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See Latest ArticlesPartial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
Journal of Medical Genetics, 11/10/09
Antonell A et al. – Along with previously reported cases, clinical–molecular correlations in these two families further corroborate that functional hemizygosity for the GTF2I +/– GTF2IRD1 genes is the main cause of the neurocognitive profile and some aspects of the gestalt phenotype of WBS.
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