Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
Plos One
Perrault, Isabelle I; Estrada-Cuzcano, Alejandro A; Lopez, Irma I; Kohl, Susanne S; Li, Shiqiang S; Testa, Francesco F; Zekveld-Vroon, Renate R; Wang, Xia X; Pomares, Esther E; Andorf, Jean J; Aboussair, Nisrine N; Banfi, Sandro S; Delphin, Nathalie N; den Hollander, Anneke I AI; Edelson, Catherine C; Florijn, Ralph R; Jean-Pierre, Marc M; Leowski, Corinne C; Megarbane, Andre A; Villanueva, Cristina C; Flores, Blanca B; Munnich, Arnold A; Ren, Huanan H; Zobor, Ditta D; Bergen, Arthur A; Chen, Rui R; Cremers, Frans P M FP; Gonzalez-Duarte, Roser R; Koenekoop, Robert K RK; Simonelli, Francesca F; Stone, Edwin E; Wissinger, Bernd B; Zhang, Qingjiong Q; Kaplan, Josseline J; Rozet, Jean-Michel JM