Article

Novel truncating mutations in <i>CTNND1</i> cause a dominant craniofacial and cardiac syndrome

2019-07-27

Abstract excerpt

<h4>Abstract:</h4> CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition and transcriptional signaling. Due to advances in next generation sequencing, CTNND1 has been implicated in human diseases including cleft palate and blepharocheilodontic syndrome (BCD) albeit only recently. I...

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Literature Corpus work: 8a650e33-6db3-5100-bafd-933539ddb9c2
DOI: 10.1101/711184

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