Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Journal: Journal of medical genetics
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Affiliated Institutions:
Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U, University of Bordeaux, Bordeaux, France didier.lacombe@chu-bordeaux.fr.
Faculté de Chirurgie Dentaire, Université de Strasbourg, and Centre de référence des maladies rares orales et dentaires, Hôpitaux Universitaires de Strasbourg, Strasbourg, and Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U, Illkirch, France.
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Department of Anesthesiology, Cincinnati Children's Hospital, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway and Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain.
Department of Medical Genetics, Koc University School of Medicine (KUSOM), Istanbul, Turkey.
Laboratorio di Ricerca in Citogenetica medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Milano, Italy.
Department of Pediatrics, Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB, CIBERER, Murcia, Spain.
Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Fondazione IRCCS, Ca'Granda Ospedale Maggiore, Milan, Italy.
Fondazione Matilde Tettamanti Menotti De Marchi Onlus, Fondazione Monza e Brianza per il Bambino e la sua Mamma, Monza, Italy.
Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.
Department of Pediatrics, Groote Schuur Hospital, University of Cape Town, Cape Town, South Africa.
Department of Pediatric Urology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Bartiméus Diagnostic Center for complex visual disorders, Zeist and Department of Ophthalmology, University Medical Center Utrecht, Utrecht, Netherlands.
Department of Medical Genetics, University Hospital of Bordeaux, and INSERM U, University of Bordeaux, Bordeaux, France.
School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.
Université de Paris, Laboratoire de Psychopathologie et Processus de Santé, Boulogne Billancourt, France.
MVZ - Humangenetik, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.
Département de Genetique, SIDVA , Juvisy-sur-Orge, France.
Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Department of Clinical and Molecular Genetics, University Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Molecular Diagnostics Laboratory, Fundacion Rioja Salud, La Rioja, Spain.
Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Psychology and Human Development Department, University College London, London, UK.
Rubinstein-Taybi Syndrome Support Group, Registered Charity, Rickmansworth, UK.
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
School of Psychology, University of Birmingham, Edgbaston, UK.
Associazione Rubinstein-Taybi Syndrome-Una Vita Speciale, Organizzazione di Volontariato (ODV), Gornate Olona, Varese, Italy.
Division of Developmental and Behavioral Pediatrics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Asociación Española para el Sindrome de Rubinstein-Taybi (AESRT), Madrid, Spain.
Immunology, Hospital Universitario La Paz, IdiPaz, Madrid, Spain.
French RTS Support Group, Paris, France.
Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), Palma, Spain.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics, Cincinnati School of Medicine, Cincinnati, Ohio, USA.
Department of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, and Department of Otolaryngology - Head and Neck Surgery, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Institution of Pediatrics, University of Debrecen Clinical Centre, Debrecen, Hungary.
Division of Paediatric Endocrinology, Department of Paediatrics, Erasmus University Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.
Department of Pediatric Gastroenterology, Emma Children's Hospital, Amsterdam UMC, University Amsterdam, Amsterdam, Netherlands.
European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Robert Debré University Hospital, Paris, France.