Joubert syndrome type 27 is an autosomal recessive disorder caused by mutations in the B9D1 gene.
1. |
Romani M et al. (2014) Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. |
2. |
OMIM.ORG article Omim 617120 |