Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children
病例报告:SLC52A2 变异导致布朗-维亚莱托-范莱尔综合征 2 型,其特征为纯红细胞再生障碍性贫血:三名中国儿童的临床和遗传特征
期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2026.1725574
Chen, Zhenzhen; Lai, Landi; Lu, Xiaomei; Zhong, Bomao; Peng, Qi; Liu, Ziqiang