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17q12微缺失综合征合并CRYBB2基因错义突变一例报道

17q12 microdeletion syndrome with CRYBB2 missense mutation:a case report
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摘要 17q12微缺失综合征属于罕见遗传病,以新发突变常见,可引起泌尿生殖系统异常、DM、神经精神类疾病、轻度畸形改变等。本文报道1例17q12微缺失综合征合并CRYBB2基因错义突变患者,合并月经异常、双肾多发囊肿、低镁血症、高尿酸血症,胰腺形态偏小,胰酶水平偏低。 17q12 microdeletion syndrome is a rare genetic disease,commonly characterized by newly occurring mutations,which can cause abnormalities of the urinary and reproductive tract,diabetes mellitus,neurological and psychiatric disorders and mild deformities.This article reports a case of 17q12 microdeletion syndrome with CRYBB2 gene missense mutation,combined with menstrual abnormalities,multiple cysts in both kidneys,hypomagnesemia,hyperuricemia,small pancreatic morphology and low pancreatic enzyme levels.
作者 谭惠婷 杨婷婷 陈文湛 徐梓筠 陈乐山 胡海应 陈幼明 陈劲松 许雪娟 TAN Huiting;YANG Tingting;CHEN Wenzhan(Department of Endocrinology,The First People's Hospital of Foshan,Foshan 528000,China)
出处 《中国糖尿病杂志》 CAS CSCD 北大核心 2024年第7期546-548,共3页 Chinese Journal of Diabetes
基金 佛山市“十四五”医学高水平重点专科建设项目(FSGSP145007)。
关键词 17q12微缺失综合征 CRYBB2 糖尿病 错义突变 17q12 microdeletion syndrome CRYBB2 Diabetes mellitus:Missense mutation
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