Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features
Year: 2016
Type: article
Study design: Case Report
Source: Genetics in Medicine
DOI: 10.1038/gim.2016.180
Authors: Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F. Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
Institutions: Inserm, Centre Hospitalier Universitaire de Grenoble, Clinatec, Université Grenoble Alpes, Hôpital Couple Enfant, Institut pour l'avancée des biosciences, Hôpital Necker-Enfants Malades, Sorbonne Paris Cité, Institut des Maladies Génétiques Imagine, Azienda Ospedaliera Universitaria Senese, University of Siena, Manchester Academic Health Science Centre, University of Manchester, CHU Dijon Bourgogne
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2558637609