Joubert syndrome type 13 is an autosomal recessive disorder caused by mutations in the TCTN1 gene.
1. |
Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. |
2. |
Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. |
3. |
OMIM.ORG article Omim 614173 |
4. |
Wikipedia article Wikipedia EN (Joubert_syndrome) |