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Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy
Authors:Christina Evers  Lilian Kaufmann  Angelika Seitz  Nagarajan Paramasivam  Martin Granzow  Stephanie Karch  Christine Fischer  Katrin Hinderhofer  Georg Gdynia  Michael Elsässer  Stefan Pinkert  Matthias Schlesner  Claus R. Bartram  Ute Moog
Affiliation:1. Institute of Human Genetics, Heidelberg University, Heidelberg, Germany;2. Correspondence to:;3. Dr. Christina Evers, Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120 Heidelberg, Germany.;4. Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany;5. Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany;6. Medical Faculty Heidelberg, Heidelberg University, Germany;7. Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany;8. Institute of Pathology, University of Heidelberg, Heidelberg, Germany;9. German Cancer Research Center, Clinical Cooperation Unit Molecular Tumor Pathology, Heidelberg, Germany;10. Department of Obstetrics and Gynecology, Prenatal Medicine, University Hospital Heidelberg, Heidelberg, Germany;11. Genomics and Proteomics Core Facility (GPCF), High Throughput Sequencing, German Cancer Research Center (DKFZ), Heidelberg, Germany
Abstract:
Keywords:CWF19L1  ataxia  cerebellar atrophy  cerebellar hypoplasia  developmental delay  intellectual disability
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