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Results 1 - 3 of 3 for Joubert syndrome 5
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  1. CEP290 gene 
    ... encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. OFD1 gene 
    ... 171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17. Citation on PubMed ... in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  3. NPHP1 gene 
    ... Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. ... a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1): ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics