Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia-Reference-Cited by-同舟云学术

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia

Published:2017-05 Issue: Volume:376 Page:7-12
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Enokizono Mikako^ORCID,Aida Noriko^ORCID,Niwa Tetsu^ORCID,Osaka Hitoshi,Naruto Takuya^ORCID,Kurosawa Kenji,Ohba Chihiro,Suzuki Toshifumi,Saitsu Hirotomo,Goto Tomohide,Matsumoto Naomichi

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference33 articles.

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

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

3. The ciliopathies: an emerging class of human genetic disorders;Badano;Annu. Rev. Genomics Hum. Genet.,2006

4. Joubert syndrome and related disorders;Brancati;Orphanet J. Rare Dis.,2010

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

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