Joubert M, Eisenring JJ, Robb JP, et al. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation[J]. Neurology, 1969, 19(9):813-825.
[2]
Romani M, Micalizzi A, Valente EM, et al. Joubert syndrome:congenital cerebellar ataxia with the molar tooth[J]. Lancet Neurol, 2013, 12(9):894-905.
[3]
Akizu N, Silbavy JL, Rosti RO, et al. Mutations in CSPP1 lead to classical Joubert syndrome[J]. Am J Hum Genet, 2014, 94(1):80-86.
Saraiva JM, Baraitser M. Joubert syndrome:a review[J]. Am J Med Genet, 1992, 43(4):726-731.
[8]
Maria BL, Hoang KB, Tusa RJ, et al. "Joubert syndrome" revisited:key ocular motor signs with magnetic resonance imaging correlation[J]. J Child Neurol, 1997, 12(7):423-430.
[9]
Travaglini L, Brancati F, Silhavy J, et al. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders[J]. Europ J Human Genet, 2013, 21(10):1074-1078.
[10]
Shetty M, Ramdas N, Sahni S, et al. A homozygous missense variant in INPP5E associated with Joubert syndrome and related disorders[J]. Mol Syndromol, 2017, 8(6):313-317.
[11]
Gee HY, Otto EA, Hurd TW, et al. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies[J]. Kidney Int, 2014, 85(4):880-887.
[12]
Kösling SK, Fansa EK, Maffini S, et al. Mechanism and dynamics of INPP5E transport into and inside the ciliary compartment[J]. Biol Chem, 2018, 399(3):277-292.
[13]
de Goede C, Yue WW, Yan G, et al. Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders[J]. EurJ Paediatr Neurol, 2016, 20(2):286-295.
