A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

@inproceedings{WinczewskaWiktor2016ADN,
  title={A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report},
  author={Anna Winczewska-Wiktor and Magdalena Badura-Stronka and Anna Monies-Nowicka and Michal Nowicki and Barbara Steinborn and Anna Latos-Bieleńska and Dorota Monies},
  booktitle={BMC Neurology},
  year={2016}
}
BackgroundIn addition to its role in cell adhesion and gene expression in the canonical Wingless/integrated Wnt signaling pathway, β-catenin also regulates genes that underlie the transmission of nerve impulses. Mutations of CTNNB1 (β-catenin) have recently been described in patients with a wide range of neurodevelopmental disorders (intellectual disability, microcephaly and other syndromic features). We for the first time associate CTNNB1 mutation with hyperekplexia identifying it as an… CONTINUE READING
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