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Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri, Alessandra; Ishikawa, Ken; Kobayashi, Tomoko; Aoki, Yoko; Ohura, Toshihiro; Kawame, Hiroshi; Kono, Michihiro; Mochida, Kosuke; Tokorodani, Chiho; Kikkawa, Kiyoshi; Morisaki, Takayuki; Kobayashi, Tetsuyuki; Nakane, Takaya; Kubo, Akiharu; Ranells, Judith D; Migita, Ohsuke; Sobey, Glenda; Kaur, Anupriya; Ishikawa, Masumi; Yamaguchi, Tomomi; Matsumoto, Naomichi; Malfait, Fransiska; Miyake, Noriko; Kosho, Tomoki.
Affiliation
  • Minatogawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Unzaki A; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Morisaki H; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Syx D; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Sonoda T; Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project, Matsumoto, Japan.
  • Janecke AR; Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
  • Slavotinek A; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.
  • Voermans NC; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Lacassie Y; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
  • Mendoza-Londono R; Department of Occupational Therapy, School of Health and Science, Kyushu University of Health and Welfare, Nobeoka, Japan.
  • Wierenga KJ; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Jayakar P; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Gahl WA; Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
  • Tifft CJ; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Figuera LE; Department of Pediatrics, Louisiana State University Health Science Center, New Orleans, LA, USA.
  • Hilhorst-Hofstee Y; Division of Clinical Genetics and Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA, USA.
  • Maugeri A; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Ishikawa K; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
  • Kobayashi T; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
  • Aoki Y; Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.
  • Ohura T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Kawame H; Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.
  • Kono M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Mochida K; División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.
  • Tokorodani C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Kikkawa K; Department of Clinical Genetics, VU University Medical Centre Amsterdam, Amsterdam, The Netherlands.
  • Morisaki T; Department of Pediatrics, Iwate Medical University, Morioka, Japan.
  • Kobayashi T; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
  • Nakane T; Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
  • Kubo A; Graduate School of Medicine, Tohoku University, Senda, Japan.
  • Ranells JD; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
  • Migita O; Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.
  • Sobey G; Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
  • Kaur A; Miyagi Children's Hospital, Sendai, Japan.
  • Ishikawa M; Division of Clinical Genetics, Jikei University Hospital, Tokyo, Japan.
  • Yamaguchi T; Department of Dermatology, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Japan.
  • Matsumoto N; Department of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine School of Medicine, Akita, Akita, Japan.
  • Malfait F; Department of Dermatology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan.
  • Miyake N; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
  • Kosho T; Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
J Med Genet ; 59(9): 865-877, 2022 Sep.
Article in En | MEDLINE | ID: mdl-34815299
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Ehlers-Danlos Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2022 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Ehlers-Danlos Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: J Med Genet Year: 2022 Document type: Article Affiliation country: