Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
Authors
Gburek-Augustat J1 2 3, Schoene-Bake JC2 4, Bültmann E5, Haack T6, Buchert R6, Synofzik M7, Biskup S;8, Feuerhake F9, Sorge I10, Hartmann H2
- Division of Neuropediatrics, University Hospital, Hospital for Children and Adolescents, Leipzig, Germany.
- Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
- Department of Neuropediatrics, Developmental Neurology, Social Paediatrics, University Children’s Hospital Tuebingen, Tuebingen, Germany.
- Gemeinschaftspraxis fuer Humangenetik, Hamburg, Germany.
- Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
- Department of Medical Genetics and Applied Genomics, Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany.
- Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
- Institute for Pathology, Hannover Medical School, Hannover, Germany.
- Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Germany.