References
- JoubertMEisenringJJRobbJPAndermannFFamilial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardationNeurology1969198138255816874
- BoltshauserEIslerWJoubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermisNeuropadiatrie197785766576733
- MariaBLBoltshauserEPalmerSCTranTXClinical features and revised diagnostic criteria in Joubert syndromeJ Child Neurol199914583590 discussion 590–59110488903
- ParisiMADohertyDChancePFGlassIAJoubert syndrome (and related disorders) (OMIM 213300)Eur J Human Genet20071551152117377524
- BrancatiFDallapiccolaBValenteEMJoubert Syndrome and related disordersOrphanet J Rare Dis201052020615230
- AdamsNAAwadeinATomaHSThe retinal ciliopathiesOphthalmic Genet20072811312517896309
- HildebrandtFBenzingTKatsanisNCiliopathiesN Engl J Med20113641533154321506742
- RomaniMMicalizziAValenteEMJoubert syndrome: congenital cerebellar ataxia with the molar toothLancet Neurol20131289490523870701
- LambertSRKrissAGrestyMBentonSTaylorDJoubert syndromeArch Ophthalmol19891077097132470340
- SaraivaJMBaraitserMJoubert syndrome: a reviewAm J Med Genet1992437267311341417
- MariaBLHoangKBTusaRJ“Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlationJ Child Neurol1997124234309373798
- MariaBLQuislingRGRosainzLCMolar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significanceJ Child Neurol19991436837610385844
- HodgkinsPRHarrisCMShawkatFSJoubert syndrome: long-term follow-upDev Med Child Neurol20044669469915473174
- KhanAOOystreckDTSeidahmedMZOphthalmic features of Joubert syndromeOphthalmology20081152286228919041481
- SturmVLeibaHMenkeMNOphthalmological findings in Joubert syndromeEye (Lond)20102422222519461662
- KeskinboraKHOcular and oculomotor findings of Joubert syndromeJ Pediatr Ophthalmol Strabismus2008455618286952
- LauFHYuCBYipWWFanDSSerous retinal detachment in Joubert syndromeJ Pediatr Ophthalmol Strabismus20094636236419928742
- GillHMuthusamyBAtanDWilliamsCEllisMJoubert syndrome presenting with motor delay and oculomotor apraxiaCase Rep Pediatr2011201126264122606509
- ParisiMADohertyDEckertMLAHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndromeJ Med Genet20064333433916155189
- WestfallJEHoytCLiuQRetinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome geneAhi1 J Neurosci20103087598768