Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome
Author:
Funder
Doris Duke Charitable Foundation
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome;Baban;Am J Med Genet A,2008
2. Premature thelarche in Coffin-Siris syndrome;Brunetti-Pierri;Am J Med Genet A,2003
3. The Coffin-Siris syndrome: Five new cases including two siblings;Carey;Am J Dis Child,1978
4. Mental retardation with absent fifth fingernail and terminal phalanx;Coffin;Am J Dis Child,1970
5. Coffin-Siris syndrome. Neuropathologic findings;DeBassio;Arch Neurol,1985
Cited by 38 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 mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans;Development;2024-02-13
2. Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome;Brain and Development;2023-10
3. Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant inCaenorhabditis elegans;2023-07-24
4. Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene;Stem Cell Research;2023-02
5. Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review;Archive of Clinical Cases;2022-09-24
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