Der Typ 14 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM237 hervorgerufen wird.
1. |
Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population. |
2. |
Janecke AR et al. (2004) Joubert-like syndrome unlinked to known candidate loci. |
3. |
Boycott KM et al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome. |
4. |
Huang L et al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. |
5. |
Schurig V et al. (1980) The Meckel syndrome in the Hutterites. |
6. |
OMIM.ORG article Omim 614424 |