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Results 1 - 4 of 4 for Joubert syndrome 10
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  1. OFD1 gene 
    ... PubMed OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 JOUBERT SYNDROME 10; JBTS10 NCBI Gene ClinVar Bisschoff IJ, Zeschnigk C, ... Brouwer AP. OFD1 is mutated in X-linked Joubert syndrome and interacts with ... 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Citation on ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  2. 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. Citation on ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. NPHP1 gene 
    ... is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. Citation on ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  4. KIF7 gene 
    ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul;121(7):2662-7. doi: 10.1172/JCI43639. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics