SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01552.x/fullpdf
Reference4 articles.
1. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.;Lehman;Am J Med Genet,2008
2. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.;Hoischen;Nat Genet,2010
3. Clinical and radiological findings in Schinzel-Giedion syndrome.;Al-Mudaffer;Eur J Pediatr,2008
4. Scoliosis in a case of Schinzel-Giedion syndrome.;Sharma;Hss J,2009
Cited by 26 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. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature;BMC Pediatrics;2024-05-06
2. Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures;Global Pediatrics;2024-03
3. The impact of SETBP1 mutations in neurological diseases and cancer;Genes to Cells;2023-07-25
4. Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome;Frontiers in Pediatrics;2022-09-06
5. SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome;Nature Communications;2021-06-30
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