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Results 1 - 3 of 3 for Joubert syndrome 1
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  1. NPHP1 gene 
    ... signs and symptoms of Senior-Løken syndrome or Joubert syndrome. JBTS4 juvenile nephronophthisis 1 protein nephrocystin-1 nephronophthisis 1 (juvenile) NPH1 SLSN1 ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. CEP290 gene 
    ... frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. OFD1 gene 
    ... JBTS10 MGC117039 MGC117040 OFD1_HUMAN oral-facial-digital syndrome 1 SGBS2 Tests of OFD1 PubMed OFD1 CENTRIOLE AND CENTRIOLAR SATELLITE PROTEIN; OFD1 JOUBERT SYNDROME 10; JBTS10 NCBI Gene ClinVar Bisschoff IJ, ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics