Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Autor: Caron V; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Chassaing N; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France., Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom., Boschann F; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany., Ngu AM; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Meloche E; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Chorfi S; CHU Sainte-Justine Research Center, Montréal, QC, Canada., Lakhani SA; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT., Ji W; Pediatric Genomic Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT., Steiner L; Department of Pediatrics, University of Rochester Medical Center, Rochester, NY., Marcadier J; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada., Jansen PR; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands., van de Pol LA; Department of Pediatric Neurology, Amsterdam UMC, location Vrije Universiteit, Amsterdam, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Russi AS; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA., Le Guyader G; Service de Génétique médicale, CHU de Poitiers, Poitiers, France., Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden., Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical genetics, Karolinska University Hospital, Stockholm, Sweden., Plaisancié J; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France., Stoltenburg C; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Horn D; Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute for Medical Genetics and Human Genetics, Berlin, Germany., Drenckhahn A; Department of Pediatric Neurology, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Hamdan FF; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Lefebvre M; UF de fœtopathologie, Hôpital Robert Debré, Paris, France., Attie-Bitach T; Service de médecine génomique des maladies rares, Hôpital Universitaire Necker-Enfants malade, Paris, France., Forey P; Centre Hospitalier d'Angoulême, Angoulême, France., Smirnov V; Exploration de la Vision et Neuro-Ophtalmologie, Hôpital Roger-Salengro, CHU de Lille, Lille, France., Ernould F; Service d'ophtalmologie, Hôpital Claude Huriez, CHU de Lille, Lille, France., Jacquemont ML; Medical Genetics, CHU La Reunion, Reunion Island, France., Grotto S; Unité de Génétique Clinique, Hôpital Robert Debré, Paris, France., Alcantud A; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain., Coret A; Servicio de Pediatría, Hospital de Sagunto, Valencia, Spain., Ferrer-Avargues R; Medical Genetics Unit, Sistemas Genómicos, Paterna, Spain., Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA., Vincent-Delorme C; Clinique de Génétique 'Guy Fontaine,' Hôpital Jeanne de Flandre, Lille, France., Romoser S; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA., Safina N; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA., Saade D; Division of Child Neurology, Stead Family Department of Pediatrics, Department of Neurology, UI Carver College of Medicine, Iowa City, IA., Lupski JR; Department of Pediatrics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Calame DG; Department of Pediatrics and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Geneviève D; Université Montpellier, INSERM U1183, Génétique clinique, CHU de Montpellier, Montpellier, France., Chatron N; Service de Génétique, Hospices Civils de Lyon, Lyon, France; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Schluth-Bolard C; Service de Génétique, Hospices Civils de Lyon, Lyon, France., Myers KA; Division of Neurology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada., Dobyns WB; Department of Pediatrics, University of Minnesota, Minneapolis, MN., Calvas P; Service de Génétique Médicale, Hôpital Purpan CHU Toulouse, Toulouse, France; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, CHU Toulouse, Toulouse, France., Salmon C; Children's & Adolescent Services, Royal Surrey County Hospital, Guildford, Surrey, United Kingdom., Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, United Kingdom., Elmslie F; St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Allaire M; Berkeley Center for Structural Biology, Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Prigozhin DM; Berkeley Center for Structural Biology, Molecular Biophysics and Integrated Bioimaging Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Tremblay A; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Obstetrics & Gynecology, Université de Montréal, Montréal, QC, Canada; Department of Biochemistry and Molecular Medecine, Université de Montréal, Montréal, QC, Canada. Electronic address: andre.tremblay.1@umontreal.ca., Michaud JL; CHU Sainte-Justine Research Center, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; Department of Neurosciences, Université de Montréal, Montréal, QC, Canada. Electronic address: jacques.michaud.med@ssss.gouv.qc.ca.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100856. Date of Electronic Publication: 2023 Apr 20.