[1]姑扎丽克孜·艾拜 杜丹阳 吾哈力·吐鲁甫 王新玲 郭艳英.携带WFS1基因双基因位点纯合突变的Wolfram综合征病例报道暨文献复习[J].国际内分泌代谢杂志,2021,41(05):478-481.[doi:10.3760/cma.j.cn121383-20210625-06078]
　Guzhali kezi·Aibai,Du Danyang,Wuhali·Tulupu,et al.Wolfram syndrome with two homozygous mutations in WFS1 gene:a case report and literature review[J].International Journal of Endocrinology and Metabolism,2021,41(05):478-481.[doi:10.3760/cma.j.cn121383-20210625-06078]
点击复制

携带WFS1基因双基因位点纯合突变的Wolfram综合征病例报道暨文献复习()
分享到：

《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
41
期数:
2021年05期
页码:
478-481
栏目:
病例报告
出版日期:
2021-09-30

文章信息/Info

Title:
Wolfram syndrome with two homozygous mutations in WFS1 gene:a case report and literature review
作者:
姑扎丽克孜·艾拜1 杜丹阳2 吾哈力·吐鲁甫1 王新玲3 郭艳英3
1新疆喀什叶城县人民医院代谢内分泌科 844900; 2新疆医科大学研究生院,乌鲁木齐 830000; 3新疆维吾尔自治区人民医院内分泌科,乌鲁木齐 830000
Author(s):
Guzhali kezi·Aibai1;  Du Danyang2;  Wuhali·Tulupu1;  Wang Xinling2;  Guo Yanying2.
1Department of Metabolic Endocrinology, the People's Hospital of Yecheng County, Kashgar 844900, China; 2Graduate School of Xinjiang Medical University, Urumqi 830000, China; 3Department of Endocrinology, the People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China
DOI:
10.3760/cma.j.cn121383-20210625-06078

参考文献/References:

[1] Najjar SS,Saikaly MG,Zaytoun GM,et al.Association of diabetes insipidus,diabetes mellitus,optic atrophy,and deafness.The Wolfram or DIDMOAD syndrome[J].Arch Dis Child,1985,60(9):823-828.DOI:10.1136/adc.60.9.823.
[2] Urano F.Wolfram syndrome:diagnosis,management,and treatment[J].Curr Diab Rep,2016,16(1):6.DOI:10.1007/s11892-015-0702-6.
[3] Gasparin MR,Crispim F,Paula SL,et al.Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome[J].Eur J Endocrinol,2009,160(2):309-316.DOI:10.1530/EJE-08-0698.
[4] Ustaoglu M,Onder F,Karapapak M,et al.Ophthalmic,systemic,and genetic characteristics of patients with Wolfram syndrome[J].Eur J Ophthalmol,2020,30(5):1099-1105.DOI:10.1177/1120672119842489.
[5] Ustaoglu M,Onder F,Karapapak M,et al.Ophthalmic,systemic,and genetic characteristics of patients with Wolfram syndrome[J].Eur J Ophthalmol,2020,30(5):1099-1105.DOI:10.1177/1120672119842489.
[6] Fonseca SG,Fukuma M,Lipson KL,et al.WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells[J].J Biol Chem,2005,280(47):39609-39615.DOI:10.1074/jbc.M507426200.
[7] 张吉平,郭清华,母义明,等.230例中枢性尿崩症患者病因分布及临床特点分析[J].中华内科杂志,2018,57(3):201-205.DOI:10.3760/cma.j.issn.0578-1426.2018.03.010.

备注/Memo

备注/Memo:
基金项目:自治区科技基础条件平台建设项目(PT1601)
通信作者:郭艳英,Email:guozeyang@126.com
更新日期/Last Update: 2021-10-10