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Results 1 - 8 of 8 for Joubert syndrome 4
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  1. Joubert syndrome 
    ... JOUBERT SYNDROME 9; JBTS9 JOUBERT SYNDROME 8; JBTS8 JOUBERT SYNDROME 4; JBTS4 JOUBERT SYNDROME 7; JBTS7 JOUBERT SYNDROME 23; JBTS23 JOUBERT SYNDROME ... PubMed Parisi MA. Clinical and molecular features of Joubert ... Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  2. 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
  3. 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
  4. 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
  5. Polymicrogyria 
    ... Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum disorder. The prevalence of isolated ... Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22;54(4):909-13. doi: 10.1212/wnl.54.4. ...
    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 ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  8. 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