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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Annika Keller, Ana Westenberger, María Jesús Sobrido, María García-Murias, Aloysius Domingo, Renee Sears, Roberta R. Lemos, Andrés Ordóñez‐Ugalde, Gaël Nicolas, José Eriton Gomes da Cunha, Elisabeth J. Rushing, Michael Hugelshofer, Moritz C. Wurnig, Andres Kaech, Regina Reimann, Katja Lohmann, Valerija Dobričić, Ãngel Carracedo, Igor Petrović, Janis M. Miyasaki, Irina Abakumova, Maarja Andaloussi Mäe, Elisabeth Raschperger, Mayana Zatz, Katja Zschiedrich, Jörg Klepper, Elizabeth Spiteri, José M. Prieto, Inmaculada Navas, Michael Preuß, Carmen Dering, Milena Janković, Martin Paucar, Per Svenningsson, Kioomars Saliminejad, Hamid Reza Khorram Khorshid, Ivana Novaković, Adriano Aguzzi, Andreas Boss, Isabelle Le Ber, Gilles Defer, Didier Hannequin, Vladimir Kostić, Dominique Campion, Daniel H. Geschwind, Giovanni Coppola, Christer Betsholtz, Christine Klein, João Ricardo Mendes de Oliveira

Nature Genetics, 2013

University Hospital of Zurich, University of Lübeck, Universidade de Santiago de Compostela, Fundación Pública Galega de Medicina Xenómica, Servicio Gallego de Salud, University of California, Los Angeles, Universidade Federal de Pernambuco, Inserm, Institute for Research and Innovation in Biomedicine, Université de Rouen Normandie, Klinik Hirslanden, Center for Pediatric Endocrinology Zurich, University of Zurich, University of Belgrade, University of Toronto, Uppsala University, Karolinska Institutet, Universidade de São Paulo, Klinikum Aschaffenburg, Cedars-Sinai Medical Center, Hospital Universitario Fundación Jiménez Díaz, Karolinska University Hospital, Academic Center for Education, Culture and Research, Biotechnology Research Center, University of Social Welfare and Rehabilitation Sciences, Centre National de la Recherche Scientifique, Sorbonne Université, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Institut du Cerveau, Université de Caen Normandie, Centre Hospitalier du Rouvray

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