Joubert syndrome type 24 is an autosomal recessive disorder caused by mutations in the TCTN2 gene.
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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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Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. |
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Huppke P et al. (2015) Tectonic gene mutations in patients with Joubert syndrome. |
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OMIM.ORG article Omim 616654 |
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Wikipedia article Wikipedia EN (Joubert_syndrome) |