Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 - 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; et al. (American journal of human genetics, 2015)
Keywords: Abnormalities, Multiple - epidemiology; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Adult; Canada - epidemiology; Cerebellum - abnormalities; Cerebellum - pathology; Child; Child, Preschool; Cilia - metabolism; Cilia - pathology; Exome - genetics; Eye Abnormalities - epidemiology; Eye Abnormalities - genetics; Eye Abnormalities - pathology; Female; Follow-Up Studies; Genetic disorders; Genetics; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Infant; Infant, Newborn; Kidney Diseases, Cystic - epidemiology; Kidney Diseases, Cystic - genetics; Kidney Diseases, Cystic - pathology; Male; Microtubule-Associated Proteins - genetics; Mutation; Mutation - genetics; Pathogenesis; Pedigree; Prognosis; Retina - abnormalities; Retina - pathology; Young Adult; Canada