Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model
与新型ACO2变异相关的婴儿小脑视网膜变性:临床特征及果蝇模型研究的启示
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14745
Buhl, Edgar; Garg, Suchika; Monaghan, Marie; Preston, Amy; Likeman, Marcus; Dare, Julianne; Evans, Julie; Taylor, Lucie S; Berry, Ian; Urankar, Kathryn; Spry, Paul G D; Williams, Cathy; Taylor, Robert W; Alston, Charlotte L; Hodge, James J L; Majumdar, Anirban