摘要
Coffin-Siris综合征(CSS)是一种罕见疾病,ARID1B基因突变可导致CSS。报道1例26岁女性患者因ARID1B基因突变导致CSS且伴DM的临床表现及诊断过程,并对相关文献进行复习。
Coffin-Siris syndrome(CSS)is a rare genetic disorder.Recently,it was shown that mutations in the ARID1 B gene are the main cause of CSS.In this study,we report a 26 year-old female who was admitted to our clinic with diabetes mellitus and CSS caused by ARID1 B mutation,and review the related literatures.
作者
侯文芳
肖文华
HOU Wenfang;XIAO Wenhua(Department of Endocrinology,Peking University Third Hospital,Beijing 100191,China)
出处
《中国糖尿病杂志》
CAS
CSCD
北大核心
2021年第4期306-309,共4页
Chinese Journal of Diabetes
