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.
Human Disease | Fish | Environment | Evidence Code |
---|---|---|---|
asphyxiating thoracic dystrophy | |||
Joubert syndrome |