A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Journal: American Journal of Human Genetics

Published: 2018-10-04

DOI: 10.1016/j.ajhg.2018.09.003

Affiliations: 30

Authors: 54

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Institutions FC
NIH National Human Genome Research Institute (NHGRI), United States of America (USA) 0.19
Institute of Neuroscience, UO, United States of America (USA) 0.09
MRC Institute of Genetics and Molecular Medicine (IGMM), United Kingdom (UK) 0.06
GeneDx Inc., United States of America (USA) 0.06
Human Genetics Program, SBP, United States of America (USA) 0.06
Nemours/Alfred I. duPont Hospital for Children, United States of America (USA) 0.04
Mayo Clinic College of Medicine and Science, United States of America (USA) 0.04
Ambry Genetics, United States of America (USA) 0.04
Department of Pediatrics, VU, United States of America (USA) 0.04
USC Children's Hospital Los Angeles (CHLA), United States of America (USA) 0.04
Complex Carbohydrate Research Center (CCRC), UGA, United States of America (USA) 0.04
Department of Molecular Medicine and Surgery (MMK), KI, Sweden 0.03
Center for Molecular Medicine (CMM), KI, Sweden 0.03
Clinical Genetics Group, KI, Sweden 0.02
Kaiser Permanente Los Angeles Medical Center, United States of America (USA) 0.02
McMaster Children's Hospital, HHS, Canada 0.02
McMaster University, Canada 0.02
Genetics Clinic, Seattle Children's Hospital, United States of America (USA) 0.02
UVA Health System, United States of America (USA) 0.02
Department of Clinical Genetics, Rigshospitalet, Denmark 0.02
Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Denmark 0.02
St. Olavs Hospital (Trondheim University Hospital), NTNU, Norway 0.02
Haugesund Hospital, Norway 0.02
SARAH Network of Rehabilitation Hospitals, Brazil 0.02
Department of Pediatrics, UT Health San Antonio, United States of America (USA) 0.01
NIH NHGRI Medical Genetics Branch, United States of America (USA) 0.01
U.S. Army San Antonio Military Medical Center, United States of America (USA) 0.01
Division of Genetics and Metabolism, Children's National Health System, United States of America (USA) 0.01
RIKEN Laboratory for Bone and Joint Diseases, Japan 0.01
Intractable Disease Center at Saitama Medical University Hospital, SMU, Japan 0.01

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