Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

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
  1. Division of Neuropediatrics, University Hospital, Hospital for Children and Adolescents, Leipzig, Germany.
  2. Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  3. Department of Neuropediatrics, Developmental Neurology, Social Paediatrics, University Children’s Hospital Tuebingen, Tuebingen, Germany.
  4. Gemeinschaftspraxis fuer Humangenetik, Hamburg, Germany.
  5. Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
  6. Department of Medical Genetics and Applied Genomics, Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany.
  7. Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  8. CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
  9. Institute for Pathology, Hannover Medical School, Hannover, Germany.
  10. Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Germany.