Harel et al., 2020
- Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Human molecular genetics
29(9):1489-1497
Full text @ Hum. Mol. Genet.
Marker Type | Symbol | Name |
---|---|---|
Gene | ccdc32 | coiled-coil domain containing 32 |
Gene | spaw | southpaw |