Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Harel T, Griffin JN, Arbogast T, Monroe TO, Palombo F, Martinelli M, Seri M, Pippucci T, Elpeleg O, Katsanis N. Hum Mol Genet. 2020 Jun 3; 29(9):1489-1497.