Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population - Srour, Myriam; Schwartzentruber, Jeremy; Hamdan, Fadi F.; Ospina, Luis H.; Patry, Lysanne; Labuda, Damian; Massicotte, Christine; Dobrzeniecka, Sylvia; Capo-Chichi, José-Mario; Papillon-Cavanagh, Simon; Samuels, Mark E.; Boycott, Kym M.; et al. (American journal of human genetics, 2012)
Keywords: Abnormalities, Multiple; Adult; Base Sequence; Biological and medical sciences; Brain; Canada; Cerebellar Diseases - genetics; Cerebellum - abnormalities; Child; Child, Preschool; Cognitive ability; Congenital defects; Data processing; Exome; Exon skipping; Eye Abnormalities - genetics; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Genomics; Genotype & phenotype; Genotyping; Heterozygote; Homozygote; Humans; Kidney Diseases, Cystic - genetics; Male; Malformations of the nervous system; Medical genetics; Medical sciences; Membrane Proteins - genetics; Molecular and cellular biology; Molecular Sequence Data; Mutation; Neurodevelopmental disorders; Neurology; Polymorphism, Single Nucleotide; Respiration; Retina - abnormalities; Siblings; Single-nucleotide polymorphism; Splicing; Canada; Human; Nervous system diseases; French canadian; Malformation; Joubert syndrome; Central nervous system disease; Genetics; Population; Mutation; Genetic disease; Cerebral disorder