Joubert-Syndrom 08
Der Typ 8 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen ARL13B hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. [^] |
| 2. |
Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. [^] |
| 3. |
Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. [^] |
| 4. |
OMIM.ORG article Omim 612291 [^] |
Update: 9. Mai 2019
