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Open Accesshttps://doi.org/10.1136/jmg-2022-108754
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Nov 1, 2022 |
 Citations: 2 |
Affiliation: Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, Neuropsychiatry Epidemiological and Clinical Research, Inserm, University of Montpellier, Centre Hospitalier de la Côte Basque, Hôpital de la Timone, University of Limoges, Bicêtre Hospital, Hôpital Roger Salengro, Centre Hospitalier Universitaire de Saint-Étienne, University of Edinburgh, Hôpital d'Enfants, Service de Neurochirurgie Pédiatrique, Paris, France., Service de Neuropédiatrie, CHU de Lyon, Lyon, France., Genetique Reproduction and Developpement, University of Angers, Centre Hospitalier Universitaire de Rennes, French National Centre for Scientific Research, University of Rennes, Département de Neurologie Pédiatrique et Centre de Référence Déficiences Intellectuelles, Centre Hospitalier Universitaire de Lyon, Lyon, France., Centre de Référence Maladies Rares "Malformations et Maladies Congénitales du Cervelet", Paris, Lyon, Lille, France., Hôpital Nord, Hôpital Arnaud de Villeneuve, Hôpital Civil, Strasbourg, Délégation Paris 7, Université Paris Cité, Imagine Institute for Genetic DiseasesPurposeIn this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes,...
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