Joubert syndrome with the decaying molar tooth sign: report of 2 cases
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s13760-024-02635-5.pdf
Reference7 articles.
1. Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813–825. https://doi.org/10.1212/wnl.19.9.813
2. Romani M, Micalizzi A, Valente EM (2013) Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 12:894–905. https://doi.org/10.1016/S1474-4422(13)70136-4
3. Quisling RG, Barkovich AJ, Maria BL (1999) Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 14(10):628–635. https://doi.org/10.1177/088307389901401002
4. Poretti A, Huisman TA, Scheer I, Boltshauser E (2011) Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 32:1459–1463. https://doi.org/10.3174/ajnr.A2517
5. Gana S, Serpieri V, Valente EM (2022) Genotype-phenotype correlates in Joubert syndrome: a review. Am J Med Genet C Semin Med Genet 190:72–88. https://doi.org/10.1002/ajmg.c.31963
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