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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto, Shuji; Janecke, Andreas R; Sadeghpour, Azita; Povysil, Gundula; McDonald, Marie T; Unger, Sheila; Greber-Platzer, Susanne; Deak, Kristen L; Katsanis, Nicholas; Superti-Furga, Andrea; Sugahara, Kazuyuki; Davis, Erica E; Yamada, Shuhei; Vodopiutz, Julia.
Afiliação
  • Mizumoto S; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
  • Janecke AR; Department of Women's and Children's Health, Clinical Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Sadeghpour A; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Povysil G; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • McDonald MT; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina.
  • Unger S; Institute of Bioinformatics, Johannes Kepler University, Linz, Austria.
  • Greber-Platzer S; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina.
  • Deak KL; Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.
  • Katsanis N; Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.
  • Superti-Furga A; Department of Pathology, Duke University Medical Center, Durham, North Carolina.
  • Sugahara K; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina.
  • Davis EE; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
  • Yamada S; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
  • Vodopiutz J; Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.
Hum Mutat ; 41(3): 655-667, 2020 03.
Article em En | MEDLINE | ID: mdl-31705726
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: N-Acetilgalactosaminiltransferases / Defeitos Congênitos da Glicosilação / Predisposição Genética para Doença / Estudos de Associação Genética / Anormalidades Musculoesqueléticas / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: N-Acetilgalactosaminiltransferases / Defeitos Congênitos da Glicosilação / Predisposição Genética para Doença / Estudos de Associação Genética / Anormalidades Musculoesqueléticas / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article