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Results 1 - 7 of 7 for Joubert syndrome 7
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; JBTS23 JOUBERT SYNDROME 20; JBTS20 JOUBERT SYNDROME ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. 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 ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  3. 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 PubMed
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  4. OFD1 gene 
    ... oral-facial-digital syndrome (described above), such as Joubert syndrome. This disorder is characterized by particular brain abnormalities, ... and breathing problems. The OFD1 mutations responsible for Joubert syndrome lead to the production of an abnormally short ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  5. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann ... Nov;58(5):680-7. doi: 10.1002/ana.20616. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Nephronophthisis 
    ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
    https://medlineplus.gov/genetics/condition/nephronophthisis - Genetics
  7. L1 syndrome 
    ... D, Mora-Lopez F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2. Epub 2015 May 7. Citation on PubMed Weller S, Gartner J. Genetic ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics