Joubert syndrome 06
Joubert syndrome type 6 is an autosomal recessive disorder caused by mutations in the TMEM67 gene.
Romano S et. al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.[^]
Baala L et. al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.[^]
Otto EA et. al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).[^]
Dafinger C et. al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.[^]