Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

@article{Tucci2014DominantM,
  title={Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.},
  author={Valter Tucci and Tjitske Kleefstra and Andrea Hardy and Ines Heise and Silvia Maggi and Marjolein H. Willemsen and H. John Hilton and Chris T Esapa and Michelle Simon and Maria-Teresa Buenavista and Liam James McGuffin and Lucie Vizor and Luca Dodero and Sotirios A. Tsaftaris and Rosario Mart{\'i}n Romero and Willy N Nillesen and Lisenka E L M Vissers and Marlies J. E. Kempers and Anneke T Vulto-van Silfhout and Zafar Iqbal and Marta Orlando and Alessandro Maccione and G Lassi and Pasqualina Farisello and Andrea Contestabile and Federico Tinarelli and Thierry Nieus and Andrea Raimondi and Barbara Greco and Daniela Cantatore and Laura Gasparini and Luca Berdondini and Angelo Bifone and Alessandro Gozzi and Sara Wells and Patrick M Nolan},
  journal={The Journal of clinical investigation},
  year={2014},
  volume={124 4},
  pages={
          1468-82
        }
}
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… CONTINUE READING

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