Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders-Reference-Cited by-同舟云学术

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Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

Published:2020-05 Issue: Volume:106 Page:43-49
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Radha Rama Devi Akella,Naushad Shaik Mohammad,Lingappa Lokesh

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference39 articles.

1. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;Neurology,1969

2. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation;Maria;J Child Neurol,1997

3. Joubert syndrome (and related disorders) (OMIM 213300);Parisi;Eur J Hum Genet,2007

4. C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals;Ye;Proc Natl Acad Sci U S A,2014

5. Joubert syndrome: a review;Saraiva;Am J Med Genet,1992

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