Tuz et al., 2014
- Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
American journal of human genetics
94(1):62-72
Full text @ Am. J. Hum. Genet.
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | cspp1a | centrosome and spindle pole associated protein 1a |
| Gene | cspp1b | centrosome and spindle pole associated protein 1b |