Joubert-Syndrom 03
Das Joubert-Syndrom 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen im AHI1-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Najmabadi H et. al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. [^] |
| 2. |
Ferland RJ et. al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. [^] |
| 3. |
Dixon-Salazar T et. al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. [^] |
| 4. |
Parisi MA et. al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. [^] |
| 5. |
Utsch B et. al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. [^] |
| 6. |
Valente EM et. al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. [^] |
| 7. |
Elsayed SM et. al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. [^] |
| 8. |
Boltshauser E et. al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. [^] |
| 9. |
Valente EM et. al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders. [^] |
| 10. |
Lagier-Tourenne C et. al. (2004) Homozygosity mapping of a third Joubert syndrome locus to 6q23. [^] |
