Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.
病例报告：伴有巨输尿管和新生 SETBP1 突变的 Schinzel-Giedion 综合征患者长期生存
期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2025.1534192
Beaman Glenda M, Jarvis Benjamin W, Goyal Anju, Keene David J B, Cervellione Max, Lopes Filipa M, Metcalfe Kay A, Woolf Adrian S, Newman William G
