Sotos syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201686.pdf
Reference31 articles.
1. Sotos JF, Dodge PR, Muirhead DD, Crawford JD, Talbot NB : A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N Engl J Med 1964; 271: 109–116.
2. Cole TR, Hughes H : Sotos syndrome: a study of the diagnostic criteria and natural history. J Med Genet 1994; 31: 20–32.
3. Kurotaki N, Imaizumi K, Harada N et al: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365–366.
4. Douglas J, Hanks S, Temple IK et al: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet 2003; 72: 132–143.
5. Rio M, Clech L, Amiel J et al: Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003; 40: 436–440.
Cited by 142 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. NSD family proteins: Rising stars as therapeutic targets;Cell Insight;2024-02
2. Emerging role of epigenetics in human neurodevelopmental disorders;Epigenetics in Human Disease;2024
3. Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities;Cell Reports;2023-12
4. Sotos syndrome treated with traditional Chinese medicine and rehabilitation: Case report;Medicine;2023-12-01
5. Exploring the genetic landscape of neurotransmitter alterations in hypoxic-ischemic encephalopathy: A personalized medicine perspective;F1000Research;2023-11-08
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