Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Institutions Share
Faculty of Medicine, SE, Hungary 0.25
UCL Great Ormond Street Institute of Child Health (ICH), United Kingdom (UK) 0.11
MTA-SE Momentum Nephrogenetic Research Group, Hungary 0.09
Imagine Institute, France 0.08
Faculty of Medicine, Alexandria University, Egypt 0.04
Great Ormond Street Hospital for Children (GOSH), United Kingdom (UK) 0.04
Cologne Center for Genomics (CCG), UoC, Germany 0.04
Royal Free Hospital, United Kingdom (UK) 0.04
Department of Genetics, ELTE, Hungary 0.03
UCL Cancer Institute, United Kingdom (UK) 0.03
Department of Biological Sciences, UQAM, Canada 0.03
Center for Molecular Medicine Cologne (CMMC), UoC, Germany 0.02
UCL Research Department of Cell and Developmental Biology (CDB), United Kingdom (UK) 0.02
UCL Institute of Ophthalmology (IoO), United Kingdom (UK) 0.02
Department of Histopathology, GOSH, United Kingdom (UK) 0.02
Department of Neurology, GOSH, United Kingdom (UK) 0.02
UCL Section of Genetics and Epigenetics in Health and Disease, United Kingdom (UK) 0.02
UCL Genetics Institute (UGI), United Kingdom (UK) 0.02
Centre for Translational Genomics (GOSgene), GOSH BRC, United Kingdom (UK) 0.02
UCL Faculty of Medical Sciences, United Kingdom (UK) 0.02
Institute of Chemistry, ELTE, Hungary 0.02
MTA-ELTE Protein Modeling Research Group, Hungary 0.02
Department of Biophysics and Radiation Biology, SE, Hungary 0.01
Center of Excellence in Research on Orphan Diseases – Fondation Courtois (CERMO-FC), UQAM, Canada 0.01
MTA-SE Pediatrics and Nephrology Research Group, Hungary 0.01
Department of Life Sciences, Brunel University London, United Kingdom (UK) 0.01
Service de Génétique Médicale, Hôpital Necker-Enfants Malades, France 0.01