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Open Accesshttps://doi.org/10.1136/jmedgenet-2021-107971
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Apr 7, 2022 |
 Citations: 3 |  License type: cc-by |
Affiliation: Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Inserm, University of Rouen, Hôpital de la Timone, Aix-Marseille University, Emory University, Erasmus MC, Université de Bretagne Occidentale, Centre Hospitalier Régional Universitaire de Brest, Laboratoire des Sciences et Techniques de l’Information de la Communication et de la Connaissance, University Hospital Regensburg, University Hospital of Wales, Cardiff University, University Cancer Institute Toulouse Oncopole, University of Southampton, French National Centre for Scientific Research, University of Strasbourg, Hôpitaux Universitaires de Strasbourg, Antwerp University Hospital, Centre Hospitalier Universitaire de Nantes, Birmingham Women’s and Children’s NHS Foundation Trust, St George's, University of London, Erasmus University Rotterdam, Imagine Institute for Genetic Diseases, Université Paris Cité, Institut Necker Enfants MaladesBackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor...
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