换一批
换一批Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>).
作者：
Mari,Minatogawa [1]
;
Ai,Unzaki [2]
;
Hiroko,Morisaki [1]
;
Delfien,Syx [2]
;
Tohru,Sonoda [3]
;
Andreas R,Janecke [4]
;
Anne,Slavotinek [5]
;
Nicol C,Voermans [6]
;
Yves,Lacassie [7]
;
Roberto,Mendoza-Londono [8]
;
Klaas J,Wierenga [9]
;
Parul,Jayakar [10]
;
William A,Gahl [11]
;
Cynthia J,Tifft [12]
;
Luis E,Figuera [13]
;
Yvonne,Hilhorst-Hofstee [14]
;
Alessandra,Maugeri [15]
;
Ken,Ishikawa [16]
;
Tomoko,Kobayashi [17]
;
Yoko,Aoki [18]
;
Toshihiro,Ohura [19]
;
Hiroshi,Kawame [18]
;
Michihiro,Kono [19]
;
Kosuke,Mochida [20]
;
Chiho,Tokorodani [21]
;
Kiyoshi,Kikkawa [22]
;
Takayuki,Morisaki [23]
;
Tetsuyuki,Kobayashi [24]
;
Takaya,Nakane [25]
;
Akiharu,Kubo [26]
;
Judith D,Ranells [27]
;
Ohsuke,Migita [28]
;
Glenda,Sobey [29]
;
Anupriya,Kaur [30]
;
Masumi,Ishikawa [31]
;
Tomomi,Yamaguchi [32]
;
Naomichi,Matsumoto [33]
;
Fransiska,Malfait [34]
;
Noriko,Miyake [35]
;
Tomoki,Kosho [35]
作者单位：
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
[1]
Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
[2]
Problem-Solving Oriented Training Program for Advanced Medical Personnel: NGSD (Next Generation Super Doctor) Project, Matsumoto, Japan.
[3]
Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
[4]
Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita, Japan.
[5]
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
[6]
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
[7]
Department of Occupational Therapy, School of Health and Science, Kyushu University of Health and Welfare, Nobeoka, Japan.
[8]
Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
[9]
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
[10]
Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
[11]
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
[12]
Department of Pediatrics, Louisiana State University Health Science Center, New Orleans, LA, USA.
[13]
Division of Clinical Genetics and Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA, USA.
[14]
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
[15]
Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
[16]
Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
[17]
Undiagnosed Diseases Program, Office of the NIH Director, National Institutes of Health, Bethesda, MD, USA.
[18]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[19]
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.
[20]
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
[21]
Department of Clinical Genetics, VU University Medical Centre Amsterdam, Amsterdam, The Netherlands.
[22]
Department of Pediatrics, Iwate Medical University, Morioka, Japan.
[23]
Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
[24]
Department of Preventive Medicine and Epidemiology, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
[25]
Graduate School of Medicine, Tohoku University, Senda, Japan.
[26]
Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
[27]
Division of Clinical Laboratory, Sendai City Hospital, Sendai, Japan.
[28]
Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
[29]
Miyagi Children's Hospital, Sendai, Japan.
[30]
Division of Clinical Genetics, Jikei University Hospital, Tokyo, Japan.
[31]
Department of Dermatology, Nagoya University Graduate School of Medicine Faculty of Medicine, Nagoya, Japan.
[32]
Department of Dermatology and Plastic Surgery, Akita University Graduate School of Medicine School of Medicine, Akita, Akita, Japan.
[33]
Department of Dermatology, University of Miyazaki Faculty of Medicine, Miyazaki, Japan.
[34]
Department of Pediatrics, Kochi Health Sciences Center, Kochi, Japan.
[35]
Division of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
[36]
Department of Internal Medicine, IMSUT Hospital, The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
[37]
Department of Internal Medicine, Nagano Chuo Hospital, Nagano, Japan.
[38]
Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Chuo, Japan.
[39]
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
[40]
Department of Pediatrics, University of South Florida, College of Medicine, Tampa, FL, USA.
[41]
Department of Clinical Genetics, St. Marianna University, School of Medicine, Kawasaki, Japan.
[42]
EDS National Diagnostic Service, Sheffield Children's Hospital, Sheffield, UK.
[43]
Department of Pediatrics (Genetics Division), Advanced Pediatric Cente, Post Graduate Institute of Medical Education and Research, Chandigarh, Chandigarh, India.
[44]
Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
[45]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[46]
Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan ktomoki@shinshu-u.ac.jp.
[47]
Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan.
[48]
主题词
畸形, 多发性(Abnormalities, Multiple);Ehlers-Danlos综合征(Ehlers-Danlos Syndrome);女(雌)性(Female);遗传关联研究(Genetic Association Studies);人类(Humans);男(雄)性(Male);表型(Phenotype);磺基转移酶类(Sulfotransferases)
DOI
10.1136/jmedgenet-2020-107623
PMID
34815299
发布时间
2022-12-22
- 浏览2
Journal of medical genetics
Journal of medical genetics
865-877页
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