Ontology highlight
ABSTRACT:
SUBMITTER: Thomas S
PROVIDER: S-EPMC4402632 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Thomas Sophie S Cantagrel Vincent V Mariani Laura L Serre Valérie V Lee Ji-Eun JE Elkhartoufi Nadia N de Lonlay Pascale P Desguerre Isabelle I Munnich Arnold A Boddaert Nathalie N Lyonnet Stanislas S Vekemans Michel M Lisgo Steven N SN Caspary Tamara T Gleeson Joseph J Attié-Bitach Tania T
European journal of human genetics : EJHG 20140820 5
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 vermis hypoplasia, and that can also include ocular abnormalities, renal cysts, liver fibrosis or polydactyly. These symptoms are shared with other ciliopathies, some of which display additional pheno ...[more]