Joubert syndrome type 16 is an autosomal recessive disorder caused by mutations in the TMEM138 gene.
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Lee JH et al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. |
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Orphanet article Orphanet ID 2318 |
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OMIM.ORG article Omim 614465 |
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Wikipedia article Wikipedia EN (Joubert_syndrome) |