Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

由 Donadille, Bruno, D’Anella, Pascal, Auclair, Martine, Uhrhammer, Nancy, Sorel, Marc, Grigorescu, Romulus, Ouzounian, Sophie, Cambonie, Gilles, Boulot, Pierre, Laforêt, Pascal, Carbonne, Bruno, Christin-Maitre, Sophie, Bignon, Yves-Jean, Vigouroux, Corinne
出版 2013

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

由 Maluenda, Jérôme, Manso, Constance, Quevarec, Loic, Vivanti, Alexandre, Marguet, Florent, Gonzales, Marie, Guimiot, Fabien, Petit, Florence, Toutain, Annick, Whalen, Sandra, Grigorescu, Romulus, Coeslier, Anne Dieux, Gut, Marta, Gut, Ivo, Laquerrière, Annie, Devaux, Jérôme, Melki, Judith
發表在 Am J Hum Genet (2016)