A novel compound heterozygous variant Of SLC12A3 Gene in A Pedigree with Gitelman Syndrome Co-Existent with Thyroid Dysfunction
Author:
Publisher
Elsevier BV
Subject
Endocrinology,General Medicine,Endocrinology, Diabetes and Metabolism
Reference14 articles.
1. Graves' disease and Gitelman syndrome;Mizokami;Clin Endocrinol (Oxf),2016
2. Gitelman Syndrome. StatPearls;Parmar,2018
3. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter;Simon;Nat Genet,1996
4. A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review;Lu;J Endocrinol Invest,2016
5. Coexistence of Graves' Disease in a 14-year-old young girl with Gitelman Syndrome;Zha;Clin Endocrinol (Oxf),2015
Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature;CEN Case Reports;2024-02-03
2. Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review;BMC Nephrology;2023-05-02
3. Cathepsin F genetic mutation is associated with familial papillary thyroid cancer;The American Journal of the Medical Sciences;2022-10
4. Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review;WORLD J CLIN CASES;2022
5. Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review;World Journal of Clinical Cases;2022-07-26
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3