Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase, ARL13B. ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar...

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Publicat a:Eur J Hum Genet
Autors principals: Thomas, Sophie, Cantagrel, Vincent, Mariani, Laura, Serre, Valérie, Lee, Ji-Eun, Elkhartoufi, Nadia, de Lonlay, Pascale, Desguerre, Isabelle, Munnich, Arnold, Boddaert, Nathalie, Lyonnet, Stanislas, Vekemans, Michel, Lisgo, Steven N, Caspary, Tamara, Gleeson, Joseph, Attié-Bitach, Tania
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4402632/
https://ncbi.nlm.nih.gov/pubmed/25138100
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.156
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