首页> American journal of medical genetics. Part A> The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

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第一作者： Andreas R,Janecke

第一单位： Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.;Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria.

作者： Andreas R,Janecke ^[1] ; Ben,Li ^[2] ; Manfred,Boehm ^[3] ; Birgit,Krabichler ^[4] ; Marianne,Rohrbach ^[5] ; Thomas,Müller ^[6] ; Irene,Fuchs ^[6] ; Gretchen,Golas ^[7] ; Yasuhiro,Katagiri ^[8] ; Shira G,Ziegler ^[7] ; William A,Gahl ^[7] ; Yael,Wilnai ^[9] ; Nicoletta,Zoppi ^[10] ; Herbert M,Geller ^[8] ; Cecilia,Giunta ^[5] ; Anne,Slavotinek ^[2] ; Beat,Steinmann ^[5]

作者单位： Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria.;Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria. ^[1] Department of Pediatrics, Division of Genetics, University of California, San Francisco, California. ^[2] Translational Medicine Branch NHLBI-NIH, Bethesda, Maryland. ^[3] Division of Human Genetics, Innsbruck Medical University, Innsbruck, Austria. ^[4] Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland. ^[5] Department of Pediatrics I, Innsbruck Medical University, Innsbruck, Austria. ^[6] NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, and Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. ^[7] Developmental Neurobiology Section, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland. ^[8] Division of Medical Genetics, Department of Pediatrics, Stanford University Medical Center, Stanford, California. ^[9] Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Brescia, Italy. ^[10]

关键词 Ehlers-Danlos syndrome N-acetylgalactosamine 4-O-sulfotransferase adducted thumb arthrogryposis clubfoot connective tissue deficiency dermatan sulfate dermatan sulfate epimerase myopathy proteoglycan