Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome
Author:
Affiliation:
1. Department of Genetics; Akron Children's Hospital; Akron Ohio
2. Summit County Medical Examiner's Office; Akron Ohio
3. Department of Pathology; Akron Children's Hospital; Akron Ohio
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference35 articles.
1. Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300;Bartholdi;J Med Genet,2007
2. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum Genet,2005
3. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome;Bartsch;Am J Med Genet Part A,2010
4. Rubinstein-Taybi syndrome: Spectrum of CREBBP mutations in Italian patients;Bentivegna;BMC Med Genet,2006
5. Integration of external signaling pathways with the core transcriptional network in embryonic stem cells;Chen;Cell,2008
Cited by 61 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. O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome;Journal of Biological Chemistry;2024-09
2. DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity;Human Genetics and Genomics Advances;2024-07
3. Cohesin — bridging the gap among gene transcription, genome stability, and human diseases;FEBS Letters;2024-06-09
4. BRD4 binds to active cranial neural crest enhancers to regulate RUNX2 activity during osteoblast differentiation;Development;2024-01-15
5. Molecular-genetic basis of Rubinstein–Taybi syndrome;Neuromuscular Diseases;2023-06-15
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