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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element |
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| Authors: | Kévin Cassinari MD Anne Rovelet-Lecrux PhD Sandrine Tury PhD Olivier Quenez MSc Anne-Claire Richard BSc Camille Charbonnier PhD Robert Olaso PhD Anne Boland PharmD PhD Jean-François Deleuze PhD Jean-François Besancenot MD PhD Benoit Delpont MD Dorothée Pouliquen MSc François Lecoquierre MD Pascal Chambon PharmD Christel Thauvin-Robinet MD PhD Dominique Campion MD PhD Thierry Frebourg MD PhD Jean-Luc Battini PhD Gaël Nicolas MD PhD |
| Affiliation: | 1. Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France;2. Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France;3. Centre National de Recherche en Génomique Humaine, Institut de Biologie François Jacob, CEA, Université Paris-Saclay, Evry, France;4. Department of Internal Medicine and Systemic Diseases, Dijon University Hospital, Dijon, France;5. Department of Neurology and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France;6. Inserm UMR 1231 GAD, Genetics of Developmental Disorders, Université de Bourgogne-Franche Comté, FHU TRANSLAD, Dijon, France CHU Dijon Bourgogne, Unité Fonctionnelle “Innovation diagnostique dans les maladies rares,” laboratoire de génétique chromosomique et moléculaire, Plateau Technique de Biologie, Dijon, France Centre de Référence Maladies Rares "Déficiences Intellectuelles de causes rares," FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France;7. Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France Department of Research, Rouvray Psychiatric Hospital, Sotteville-les-Rouen, France |
| Abstract: | |
| Keywords: | CNV enhancer primary familial brain calcification regulation SLC20A2 |