Joubert syndrome 10
Joubert syndrome type 10 is an x-linked recessive disorder caused by mutations in the OFD1 gene.
Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.[^]
Field M et al. (2012) Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.[^]
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.[^]
OMIM.ORG articleOmim 300804 [^]