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  5. Joubert syndrome 3

Joubert syndrome 3

December 31, 2014

Latest Research

  • 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A
  • A novel non-sense variant in the OFD1 gene caused Joubert syndrome
  • ABO blood type and functional neurological outcome in patients with severe traumatic brain injury
  • Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration
  • An Atypical Presentation of Joubert Syndrome Due to a Novel Mutation in <em>ZNF423</em> Gene
More Research
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