Joubert syndrome 21 is an autosomal recessive disorder caused by mutations of the CSPP1 gene.
1. |
Shaheen R et al. (2014) Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. |
2. |
Akizu N et al. (2014) Mutations in CSPP1 lead to classical Joubert syndrome. |
3. |
Tuz K et al. (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. |
4. |
OMIM.ORG article Omim 615636 |