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Results 1 - 3 of 3 for Joubert syndrome 4
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  1. OFD1 gene 
    ... Brouwer AP. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009. ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  2. KIF7 gene 
    ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic ... kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  3. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics