Der Typ 17 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM237 hervorgerufen wird.
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Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. |
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Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. |
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Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. |
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Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. |
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OMIM.ORG article Omim 614615 |