摘要
报道1例新发ABCC2基因复合杂合突变的Dubin-Johnson综合征(Dubin-Johnson syndrome,DJS)患儿临床表现及基因型,扩展DJS突变的基因谱;并进行文献复习,总结我国DJS儿童患病的临床特点,为该病早期发现及诊断提供思路。
This study presented the clinical manifestations and genotypes of a new case of Dubin-Johnson syndrome(DJS)with complex heterozygous mutation of ABCC2 gene,caming to expand the gene profile of DJS mutation.The clinical characteristics of DJS were summarized to aid in early diagnosis.
作者
蒯钰
朱会
唐笠
黄宇
朱道娟
朱书瑶
罗泽民
陈艾
熊复
KUAI Yu;ZHU Hui;TANG Li;HUANG Yu;ZHU Daojuan;ZHU Shuyao;LUO Zemin;CHEN Ai;XIONG Fu(Department of Pediatrics,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu 610000,China)
出处
《胃肠病学和肝病学杂志》
CAS
2024年第6期789-792,共4页
Chinese Journal of Gastroenterology and Hepatology
基金
成科财(2021-YF05-01658-SN)
四川省妇幼保健院科技创新基金项目(CXPJ017-2020)。
