Joubert syndrome 24
Joubert syndrome type 24 is an autosomal recessive disorder caused by mutations in the TCTN2 gene.
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.[^]
Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.[^]
Huppke P et al. (2015) Tectonic gene mutations in patients with Joubert syndrome.[^]
OMIM.ORG articleOmim 616654 [^]
Wikipedia articleWikipedia EN (Joubert_syndrome) [^]