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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen, Asbjørg; Backe, Paul H; Sorte, Hanne S; Mørkrid, Lars; Chokshi, Niti Y; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B P; Bjørås, Magnar; Wlodarski, Marcin W; Krüger, Marcus; Jhangiani, Shalini N; Muzny, Donna M; Patel, Ankita; Raymond, Kimiyo M; Sasa, Ghadir S; Krance, Robert A; Martinez, Caridad A; Abraham, Shirley M; Speckmann, Carsten; Ehl, Stephan; Hall, Patricia; Forbes, Lisa R; Merckoll, Else; Westvik, Jostein; Nishimura, Gen; Rustad, Cecilie F; Abrahamsen, Tore G; Rønnestad, Arild; Osnes, Liv T; Egeland, Torstein; Rødningen, Olaug K; Beck, Christine R; Boerwinkle, Eric A; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Lausch, Ekkehart; Hanson, I Celine.
Affiliation
  • Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children
  • Backe PH; Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway; Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway.
  • Sorte HS; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.
  • Mørkrid L; Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway.
  • Chokshi NY; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Erichsen HC; Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Elgstøen KB; Department of Medical Biochemistry, Oslo University Hospital, 0424 Oslo, Norway.
  • Bjørås M; Department of Microbiology, Oslo University Hospital, 0424 Oslo, Norway; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway.
  • Wlodarski MW; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany.
  • Krüger M; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Patel A; Medical Genetics Laboratories, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Raymond KM; Department of Laboratory Medicine and Pathology, Mayo College of Medicine, Rochester, MN 55905, USA.
  • Sasa GS; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy and Texas Children's Cancer and Hematology Centers, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA.
  • Krance RA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy and Texas Children's Cancer and Hematology Centers, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA.
  • Martinez CA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Center for Cell and Gene Therapy and Texas Children's Cancer and Hematology Centers, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA.
  • Abraham SM; Pediatric Hematology Oncology, University of New Mexico, Albuquerque, NM 87106, USA.
  • Speckmann C; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany.
  • Ehl S; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany.
  • Hall P; Emory Genetics Laboratory, Department of Human Genetics, Emory University, Decatur, GA 30033, USA.
  • Forbes LR; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houst
  • Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway.
  • Westvik J; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway.
  • Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.
  • Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.
  • Abrahamsen TG; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway; Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway.
  • Rønnestad A; Department of Pediatrics, Oslo University Hospital, 0424 Oslo, Norway.
  • Osnes LT; Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway.
  • Egeland T; Institute of Clinical Medicine, University of Oslo, 0318 Oslo, Norway; Department of Immunology and Transfusion Medicine, Oslo University Hospital, 0424 Oslo, Norway.
  • Rødningen OK; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway.
  • Beck CR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Boerwinkle EA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, University of Texas Health Science Center, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Molecular a
  • Orange JS; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houst
  • Lausch E; Department of Pediatrics, Freiburg University Hospital, 79106 Freiburg, Germany.
  • Hanson IC; Section of Immunology, Allergy, and Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Am J Hum Genet ; 95(1): 96-107, 2014 Jul 03.
Article in En | MEDLINE | ID: mdl-24931394
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Full text: 1 Database: MEDLINE Main subject: Phosphoglucomutase / Bone Diseases, Developmental / Congenital Disorders of Glycosylation / Immunologic Deficiency Syndromes / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Year: 2014 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Phosphoglucomutase / Bone Diseases, Developmental / Congenital Disorders of Glycosylation / Immunologic Deficiency Syndromes / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Year: 2014 Type: Article