
Joubert Syndrome, A Ciliopathy
References
- Joubert M Eisenring JJ Robb JP Andermann F Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation Neurology 1969 Sep 19 9 813 25 10.1212/WNL.19.9.813 5816874
- Romani M Micalizzi A Valente EM Joubert syndrome: congenital cerebellar ataxia with the molar tooth Lancet Neurol 2013 Sep 12 9 894 905 10.1016/S1474-4422(13)70136-4 23870701
- Quarello E Molho M Garel C Couture A Legac MP Moutard ML Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders Ultrasound Obstet Gynecol 2014 Feb 43 2 227 32 10.1002/uog.12567 23868831
DOI: https://doi.org/10.15844/pedneurbriefs-27-10-8 | Journal eISSN: 2166-6482
Language: English
Page range: 79 - 79
Published on: Oct 1, 2013
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.