Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
D.L. Polla(Ministry of Education), Arjan P.M. de Brouwer(Radboud University Nijmegen), Hans van Bokhoven(Radboud University Nijmegen), Linlea Armstrong(University of British Columbia), Ana Berta Sousa(Administração Regional de Saúde de Lisboa e Vale do Tejo), Michael March(Children's Hospital of Philadelphia), Andrew C. Edmondson(Translational Therapeutics (United States)), Xin Bi(University of Pennsylvania), Avni Santani(Children's Hospital of Philadelphia), Paula Jorge(Universidade do Porto), Marina P. Hommersom(Radboud University Nijmegen), Sandrine Duvet(Centre National de la Recherche Scientifique), Céline Schulz(Centre National de la Recherche Scientifique), Sophie C. Huffels(Radboud University Nijmegen), Anneke J.A. Kievit(Erasmus MC), Serwet Demirdas(Erasmus MC), Fleur van Dijk(London North West Healthcare NHS Trust), Daniel J. Rader(University of Pennsylvania), Marjon A. van Slegtenhorst(Erasmus MC), Kosuke Izumi(Children's Hospital of Philadelphia), Elisa De Franco(University of Exeter), Sian Ellard(University of Exeter), Miao He(Fudan University), Dirk J. Lefeber(Radboud University Nijmegen), Anna Lehman(University of British Columbia), Elaine H. Zackai(Children's Hospital of Philadelphia), Dmitriy Niyazov(Ochsner Health System), Nicholas J. Hand(Johns Hopkins University)
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