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