Joubert Syndrome, A Ciliopathy

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-10-8

Joubert Syndrome, A Ciliopathy

Pediatric Neurology Briefs

Volume 27 (2013): Issue 10

By: J Gordon Millichap

Open Access

|Oct 2013

Abstract

Investigators at Neurogenetics Unit, Mendel Laboratory, Rome, and University of Salerno, Italy, review the clinical features and genetic basis of Joubert syndrome, overlap with other ciliopathies, and the multifaceted roles of primary cilia in CNS development.

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
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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
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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
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-10-8 | Journal eISSN: 2166-6482

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Language: English

Page range: 79 - 79

Published on: Oct 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

CNS Defects,

Heterogeneous Disorders,

Prenatal Abnormal Features

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 10