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Open Accesshttps://doi.org/10.1136/jmedgenet-2020-107595
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Apr 5, 2021 |
 Citations: 26 |  License type: open-access |
Affiliation: Inserm, University of Rouen, Normandie Université, University of Franche-Comté, Bicêtre Hospital, Institut NeuroMyoGène, French National Centre for Scientific Research, Claude Bernard University Lyon 1, Sorbonne Université, Hôpital Robert-Debré, Groupe Hospitalier du Havre, University of Paris-Saclay, Centre Hospitalier du Mans, Institut Polytechnique de Paris, Centre Hospitalier Sud Francilien, Université Grenoble Alpes, Centre Hospitalier Universitaire de Grenoble, Hôpital Intercommunal de Créteil, Hôpital Necker-Enfants Malades, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Lebanese American University, Hôpital Antoine-Béclère, Assistance Publique – Hôpitaux de Paris, Université Paris Cité, Hôpital Jean-Verdier, Délégation Paris 7, Hôpital Pellegrin, Centre Hospitalier Universitaire de Lille, Clinique Les Fontaines, Hôpital de la Timone, Centre de Recherche en Myologie, Imagine Institute for Genetic Diseases, Yeditepe University, University of Bari Aldo Moro, Polytechnic University of Bari, Centre de Référence Déficits Immunitaires Héréditaires, Hospices Civils de Lyon, University of Burgundy, Hôpital d'Enfants, Hôpital Purpan, Maternité Port Royal, Hôpital Cochin, Ghent University Hospital, Centre Hospitalier Universitaire de La Réunion, Institute of Genetics and Molecular and Cellular Biology, University of Strasbourg, Génétique Moléculaire Génomique Microbiologie, Università Cattolica del Sacro Cuore, Centre Hospitalier Universitaire de Rennes, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Centre Hospitalier Universitaire de Tours, Pitié-Salpêtrière Hospital, Hôpital Armand-Trousseau, Université de Tours, Centre for Genomic Regulation, Pompeu Fabra University, Raymond Poincaré University Hospital, Nantes Université, Centre Hospitalier Universitaire de Nantes, Institut du Thorax, Centre Hospitalier Universitaire d'Angers, Centre Hospitalier Universitaire de Saint-ÉtienneBackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic...
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