Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. JBTS is a genetically heterogeneous ciliopathy. We sought to characterize the geneti...

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Publicado en:Am J Hum Genet
Autores principales: Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4667103/
https://ncbi.nlm.nih.gov/pubmed/26477546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.09.009
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