GeneticsHuman Molecular GeneticsPeer-reviewed
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles…·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.