Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant
常染色体显性遗传回旋状萎缩样脉络膜营养不良症再探:45 年随访及与新型 C1QTNF5 错义变异的关联
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms22042089
Kellner, Ulrich; Weisschuh, Nicole; Weinitz, Silke; Farmand, Ghazaleh; Deutsch, Sebastian; Kortüm, Friederike; Mazzola, Pascale; Schäferhoff, Karin; Marino, Valerio; Dell'Orco, Daniele