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Results 1 - 7 of 7 for Joubert syndrome 5
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 2; JBTS2 JOUBERT SYNDROME 3; JBTS3 JOUBERT SYNDROME 5; JBTS5 JOUBERT SYNDROME 6; JBTS6 JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME ... JBTS14 PubMed ... Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - 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. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  3. OFD1 gene 
    ... 171-8. doi: 10.1007/s00439-006-0210-5. Epub 2006 Jun 17. Citation on PubMed ... in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  4. NPHP1 gene 
    ... Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. ... a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul;75(1): ...
    https://medlineplus.gov/genetics/gene/nphp1 - 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 Neurol. 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. Citation ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. L1 syndrome 
    ... Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus. J Neurosurg. 2006 Nov;105(5 Suppl):403-12. doi: 10.3171/ped.2006. ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  7. Renal tubular dysgenesis 
    ... condition. Allanson Pantzar McLeod syndrome Primitive renal tubule syndrome ... JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Mutations in genes ...
    https://medlineplus.gov/genetics/condition/renal-tubular-dysgenesis - Genetics