A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

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第一作者： Xenia,Latypova

第一单位： Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, 38000 Grenoble, France.

作者： Xenia,Latypova ^[1] ; Stefan Giovanni,Creadore ^[2] ; Noémi,Dahan-Oliel ^[3] ; Anxhela Gjyshi,Gustafson ^[2] ; Steven,Wei-Hung Hwang ^[4] ; Tanya,Bedard ^[5] ; Kamran,Shazand ^[2] ; Harold J P,van Bosse ^[4] ; Philip F,Giampietro ^[6] ; Klaus,Dieterich ^[7]

作者单位： Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, 38000 Grenoble, France. ^[1] Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA. ^[2] Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.;School of Physical & Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada. ^[3] Shriners Hospitals for Children, Philadelphia, PA 19140, USA. ^[4] Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Edmonton, AB T5J 3E4, Canada. ^[5] Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA. ^[6] Institut of Advanced Biosciences, Université Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, 38000 Grenoble, France. ^[7]

关键词 Amyoplasia CNV (copy number variant)DA (distal arthrogryposis)DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources)HPO (human phenotype ontology)IGF2 IPA (ingenuity pathway analysis)MYOD akinesia scoliosis