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Paper Details

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
45
2018
CDG, COG, COG1, COG4, COG4 mRNA, COG5-8, Gly516Arg, Saul-Wilson Syndrome, Saul-Wilson syndrome, amino acid, conserved oligomeric Golgi, decorin, fibroblasts, lobe B, morphologic abnormalities, primordial dwarfism, skeletal dysplasia
Author NameAffiliation
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health
Zhi-Jie XiaSanford Burnham Prebys Medical Discovery Institute
Aurélie ClémentInstitute of Neuroscience, University of Oregon
David A D ParryInstitute of Genetics and Molecular Medicine, University of Edinburgh
Mariska DavidsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Mariska DavidsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Fulya TaylanCenter for Molecular Medicine, Karolinska Institutet
Prashant SharmaOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Coleman T TurgeonMayo Clinic College of Medicine
Bernardo Blanco-SánchezInstitute of Neuroscience, University of Oregon
Bobby G NgSanford Burnham Prebys Medical Discovery Institute
Clare V LoganInstitute of Genetics and Molecular Medicine, University of Edinburgh
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Benjamin D Solomon
Megan T Cho
Ganka Douglas
Daniel R CarvalhoSARAH Network of Rehabilitation Hospitals
Heiko BratkeHaugesund District Hospital
Marte G HaugSt. Olav's Hospital
Jennifer B PhillipsInstitute of Neuroscience, University of Oregon
Jeremy WegnerInstitute of Neuroscience, University of Oregon
Michael TiemeyerComplex Carbohydrate Research Center, University of Georgia
Kazuhiro AokiComplex Carbohydrate Research Center, University of Georgia
Ann NordgrenCenter for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital
Anna HammarsjöCenter for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital
Angela L DukerA.I. duPont Hospital for Children
Luis RohenaSan Antonio Military Medical Center, University of Texas Health Science Center
Hanne B HoveRigshospitalet
Jakob EkRigshospitalet
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Tito OnyekweliOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Tara WeixelOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Ellen MacnamaraOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Kelly Radtke
Zöe Powis
Dawn Earl
Melissa GabrielChildren's Hospital of Los Angeles, University of Southern California
Alvaro H Serrano RussiChildren's Hospital of Los Angeles, University of Southern California
Lauren BrickMcMaster Children's Hospital, McMaster University
Mariya KozenkoMcMaster Children's Hospital, McMaster University
Emma ThamCenter for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital
Kimiyo RaymondMayo Clinic College of Medicine
John A PhillipsVanderbilt University Medical Center
John A PhillipsVanderbilt University Medical Center
George E TillerKaiser Permanente
William G WilsonUniversity of Virginia Health System
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