Der Typ 6 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM67 hervorgerufen wird.
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Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. |
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Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. |
3. |
Baala L et al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. |
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Otto EA et al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). |
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OMIM.ORG article Omim 610688 |