Article
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Journal of medical genetics - 1 Jun 2018
Miguet Marguerite, Faivre Laurence, Amiel Jeanne, Nizon Mathilde, Touraine Renaud, Prieur Fabienne, Pasquier Laurent, Lefebvre Mathilde, Thevenon Julien, Dubourg Christèle, Julia Sophie, Sarret Catherine, Remerand Ganaëlle, Francannet Christine, Laffargue Fanny, Boespflug-Tanguy Odile, David Albert, Isidor Bertrand, Vigneron Jacqueline, Leheup Bruno, Lambert Laetitia, Philippe Christophe, Béri-Dexheimer Mylène, Cuisset Jean-Marie, Andrieux Joris, Plessis Ghislaine, Toutain Annick, Guibaud Laurent, Cormier-Daire Valérie, Rio Marlene, Bonnefont Jean-Paul, Echenne Bernard, Journel Hubert, Burglen Lydie, Chantot-Bastaraud Sandrine, Bienvenu Thierry, Baumann Clarisse, Perrin Laurence, Drunat Séverine, Jouk Pierre-Simon, Dieterich Klaus, Devillard Françoise, Lacombe Didier, Philip Nicole, Sigaudy Sabine, Moncla Anne, Missirian Chantal, Badens Catherine, Perreton Nathalie, Thauvin-Robinet Christel, AChro-Puce Réseau, Pedespan Jean-Michel, Rooryck Caroline, Goizet Cyril, Vincent-Delorme Catherine, Duban-Bedu Bénédicte, Bahi-Buisson Nadia, Afenjar Alexandra, Maincent Kim, Héron Delphine, Alessandri Jean-Luc, Martin-Coignard Dominique, Lesca Gaëtan, Rossi Massimiliano, Raynaud Martine, Callier Patrick, Mosca-Boidron Anne-Laure, Marle Nathalie, Coutton Charles, Satre Véronique, Caignec Cédric Le, Malan Valérie, Romana Serge, Keren Boris, Tabet Anne-Claude, Kremer Valérie, Scheidecker Sophie, Vigouroux Adeline, Lackmy-Port-Lis Marilyn, Sanlaville Damien, Till Marianne, Carneiro Maryline, Gilbert-Dussardier Brigitte, Willems Marjolaine, Van Esch Hilde, Portes Vincent Des, El Chehadeh Salima
Abstract excerpt
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have been published. We aimed to better describe the phenotype of this condition, with a focus on morphological and neurological features. Through a national...
