单剂量GC101基因疗法治疗Ⅱ型和Ⅲ型脊髓性肌萎缩症

Ma XW, Jiang XY, Li ZQ, et al. Single-dose GC101 gene therapy for spinal muscular atrophy types II and III: an open-label single-arm study. World J Pediatr. 2025;21(9):935-940. doi:10.1007/s12519-025-00955-x

Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients 

基于基因负荷分析发现儿童特发性矮小症相关的新型易感基因

Xiao F, Cai MY, Yang BY, et al. Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients. World J Pediatr. 2026;22(3):362-371. doi:10.1007/s12519-026-01021-w

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay

新型PCR-毛细管电泳法在FMR1 CGG重复序列检测中提高准确性和敏感性的多中心评估

Shou XY, Zhu ZW, Jin H, et al. Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay. World J Pediatr. 2025;21(10):1040-1052. doi:10.1007/s12519-025-00977-5

Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader–Willi syndrome: insights from a frameshift variant

MKRN3相关中枢性性早熟与Prader–Willi综合征青春期异常的差异性表观遗传特征

Jin YY, Wang X, Yang L, Mu J, Luo FH. Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant. World J Pediatr. 2026;22(2):258-271. doi:10.1007/s12519-026-01017-6