Joubert-Syndrom 14
Der Typ 14 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM237 hervorgerufen wird.
Gliederung
Referenzen:
| 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 [^] |
Update: 29. April 2019
