المؤلفون: Roosing S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA., Rosti RO; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA., Rosti B; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA., de Vrieze E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Silhavy JL; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA., van Wijk E; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands., Wakeling E; North West Thames Regional Genetic Service, North West London Hospitals, NHS Trust, London, United Kingdom., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.

المصدر: Human genetics [Hum Genet] 2016 Aug; Vol. 135 (8), pp. 919-921. Date of Electronic Publication: 2016 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Cerebellum/*abnormalities , Ciliopathies/*genetics , Codon, Nonsense/*genetics , Eye Abnormalities/*genetics , Kidney Diseases, Cystic/*genetics , Microtubule-Associated Proteins/*genetics , Retina/*abnormalities, Abnormalities, Multiple/physiopathology ; Adult ; Animals ; Cerebellum/physiopathology ; Child ; Child, Preschool ; Cilia/drug effects ; Cilia/pathology ; Ciliopathies/physiopathology ; DNA, Complementary/administration & dosage ; Disease Models, Animal ; Exome/genetics ; Eye Abnormalities/physiopathology ; Female ; Gene Knockdown Techniques ; Homozygote ; Humans ; Kidney Diseases, Cystic/physiopathology ; Male ; Pedigree ; Phenotype ; Retina/physiopathology ; Zebrafish/genetics

SCR Disease Name: Agenesis of Cerebellar Vermis