Der Typ 10 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TCTN2 hervorgerufen wird.
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1. |
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. ![]() |
2. |
Dowdle WE et al. (2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome. ![]() |
3. |
OMIM.ORG article Omim 614175![]() |