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