Der Typ 10 des Joubert-Syndroms ist eine x-chromosomal rezessive Erkrankung, die durch Mutationen im Gen OFD1 hervorgerufen wird.
1. |
Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. |
2. |
Field M et al. (2012) Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. |
3. |
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. |
4. |
OMIM.ORG article Omim 300804 |