RESEARCH ARTICLE Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes Marjo K. Hytönen1,2,3, Meharji Arumilli1,2,3, Anu K. Lappalainen4, Marta Owczarek-Lipska5, Vidhya Jagannathan5, Sruthi Hundi1,2,3, Elina Salmela1,2,3, Patrick Venta6, Eva Sarkiala4, Tarja Jokinen1,4, Daniela Gorgas7, Juha Kere2,3,8, Pekka Nieminen9, Cord Drögemüller5☯, a11111 Hannes Lohi1,2,3☯* 1 Department of Veterinary Biosciences, University of Helsinki, Helsinki, Finland, 2 Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland, 3 The Folkhälsan Institute of Genetics, Helsinki, Finland, 4 Department of Equine and Small Animal Medicine, University of Helsinki, Helsinki, Finland, 5 Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland, 6 Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan, United States of America, 7 Division of Clinical Radiology, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, OPEN ACCESS University of Bern, Bern, Switzerland, 8 Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden, 9 Department of Oral and Maxillofacial Diseases, University of Helsinki, Helsinki, Citation: Hytönen MK, Arumilli M, Lappalainen AK, Finland Owczarek-Lipska M, Jagannathan V, Hundi S, et al. ☯ (2016) Molecular Characterization of Three Canine These authors contributed equally to this work. *
[email protected] Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12(5): e1006037. doi:10.1371/journal. pgen.1006037 Abstract Editor: Leigh Anne Clark, Clemson University, UNITED STATES One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions.