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Xu, C. Joubert Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4186 (accessed on 28 September 2026).
Xu C. Joubert Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4186. Accessed September 28, 2026.
Xu, Camila. "Joubert Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4186 (accessed September 28, 2026).
Xu, C. (2020, December 23). Joubert Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4186
Xu, Camila. "Joubert Syndrome." Encyclopedia. Web. 23 December, 2020.
Copy Citation
Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
genetic conditions
References
- Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and relateddisorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20.Review.
- Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009 Sep;16(3):143-54. doi:10.1016/j.spen.2009.06.002. Review.
- Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E.Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologicsignificance. J Child Neurol. 1999 Jun;14(6):368-76.
- Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [updated 2017 Jun 29]. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1325/
- Parisi MA. Clinical and molecular features of Joubert syndrome and relateddisorders. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40. doi:10.1002/ajmg.c.30229. Review.
- Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellarataxia with the molar tooth. Lancet Neurol. 2013 Sep;12(9):894-905. doi:10.1016/S1474-4422(13)70136-4.
- Valente EM, Dallapiccola B, Bertini E. Joubert syndrome and related disorders.Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7.Review.
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