Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily Kathryn Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin A. Chang, Abhijit Dixit, Monica Konstantino, Christopher Healy, Sumayyah Hannan, Natsuko Neo, Alex Cash, , Karen J. Liu
The paper identifies novel truncating mutations in CTNND1 associated with craniofacial and cardiac anomalies, expanding the known phenotypic spectrum of the gene.
Human Molecular Genetics · Mar 17, 2020Peer-reviewedGenetics