Zhang Ao,Dai Chunjuan,Zhao Xuwen,et al.Total intestinal aganglionosis with a novel SOX10 mutation:a case report[J].Journal of Clinical Pediatric Surgery,2025,(04):386-388.[doi:10.3760/cma.j.cn101785-202311018-016]
全肠无神经节细胞症合并新的SOX10突变1例
- Title:
- Total intestinal aganglionosis with a novel SOX10 mutation:a case report
- 摘要:
- 全肠无神经节细胞症是先天性巨结肠中十分罕见的类型,其临床表现不典型,诊疗上存在一定困难。SOX10基因突变被认为与先天性巨结肠症有关。本文报道1例合并新的SOX10突变的全肠无神经节细胞症患儿,以提高临床对此罕见疾病的认识。
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备注/Memo
收稿日期:2023-1-5。
通讯作者:胡博,Email:surgeyhubo@163.com