Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

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作者： Sebastian,Gippert ^[1] ; Matias,Wagner ^[2] ; Theresa,Brunet ^[3] ; Riccardo,Berruti ^[2] ; Melanie,Brugger ^[4] ; Eva M C,Schwaibold ^[2] ; Tobias B,Haack ^[2] ; Georg F,Hoffmann ^[5] ; Markus,Bettendorf ^[6] ; Daniela,Choukair ^[1]

作者单位： Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany. ^[1] Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany. ^[2] Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany. ^[3] Department of Pediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig Maximilian University of Munich, Munich, Germany. ^[4] Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. ^[5] Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen, Germany and Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany. ^[6] Division of Pediatric Endocrinology and Diabetes, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany and Center for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany. daniela.choukair@med.uni-heidelberg.de. ^[7]

关键词 Exome sequencing TRANSLATE-NAMSE chronic pediatric endocrine diseases multidisciplinary case conferences rare diseases