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Joubert syndrome 4
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- ... 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. ...
- ... 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. ...
- ... Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic ... kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing ...
- ... This Health Condition MedlinePlus Genetics provides information about Joubert syndrome More About This Health Condition MedlinePlus Genetics provides ...
- ... 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. ...
- ... at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological ...
- ... 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 ...
- ... 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 ...