先天性巨结肠家系EDNRB基因重复突变1例报道并文献复习

丁辉阳 雷雯 许露 肖尚杰 周佳亮 原丽科 黄蓉 张亮 朱小春

Identification of a novel heterozygous mutation in EDNRB in a Chinese family with Hirschsprung's disease: a case report and literature review

Ding Huiyang, Lei Wen, Xu Lu, Xiao Shangjie, Zhou Jialiang, Yuan Like, Huang Rong, Zhang Liang, Zhu Xiaochun
国际医药卫生导报 . 2023, (17): 2381 -2386 .  DOI: 10.3760/cma.j.issn.1007-1245.2023.17.004