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Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features
2014
Journal of Clinical Investigation
The recent identification of multiple dominant mutations in the gene encoding β-catenin in both humans and mice has enabled exploration of the molecular and cellular basis of β-catenin function in cognitive impairment. In humans, β-catenin mutations that cause a spectrum of neurodevelopmental disorders have been identified. We identified de novo β-catenin mutations in patients with intellectual disability, carefully characterized their phenotypes, and were able to define a recognizable
doi:10.1172/jci70372
pmid:24614104
pmcid:PMC3973091
fatcat:mrbvshcojve6tkf5eocuc5ucay