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Joubert Syndrome

Published:2018-03-09 Issue: Volume: Page:151-157
ISSN:
Container-title:Developmental Neuropathology
language:
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Author:

Hevner Robert F.¹²,Dobyns William B.²³,Valente Enza Maria⁴

Affiliation:

1. University of Washington; Department of Neurological Surgery; Seattle WA USA

2. Seattle Children's Research Institute; Center for Integrative Brain Research; Seattle WA USA

3. University of Washington; Department of Pediatrics; Seattle WA USA

4. University of Salerno; Section of Neurosciences, Department of Medicine and Surgery; Fisciano Italy

Publisher

John Wiley & Sons, Ltd

Reference38 articles.

1. Joubert syndrome: insights into brain development, cilium biology, and complex disease;Doherty;Semin Pediatr Neurol,2009

2. The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders;Sattar;Dev Med Child Neurol,2011

3. Clinical and molecular features of Joubert syndrome and related disorders;Parisi;Am J Med Genet C Semin Med Genet,2009

4. Clinical utility gene card for: Joubert syndrome: update 2013;Valente;Eur J Hum Genet,2013

5. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes;Valente;Nat Genet,2010

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Development and Developmental Disorders of the Human Cerebellum;Clinical Neuroembryology;2023

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