A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech
Author:
Affiliation:
1. Institute of Medical Genetics; Tomsk Russia
2. National Research Tomsk State University; Tomsk Russia
3. Siberian State Medical University; Tomsk Russia
Funder
Russian Science Foundation
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference36 articles.
1. Analysis of quantitative trait loci in mice suggests a role of Enoph1 in stress reactivity;Barth;J Neurochem,2014
2. Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability;Bartnik;J Appl Genet,2014
3. Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication;Beck;PLoS Genet,2015
4. Evidence of selection signatures that shape the Persian cat breed;Bertolini;Mamm Genome,2016
5. Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence;Bhoj;Am J Med Genet Part A,2013
Cited by 7 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. Evidence that enolase-phosphatase 1 exacerbates early cerebral ischemia injury and blood–brain barrier breakdown by enhancing extracellular matrix destruction and inhibiting the interaction between ADI1 and MT1-MMP;Experimental Neurology;2023-07
2. Chromosome 4q deletion syndrome: 4q13.3-q21.23 deletion syndrome with mental retardation, congenital heart disease: a case report and literature review;2023-03-07
3. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders;Genome Medicine;2021-04-19
4. Stearoyl-CoA desaturase 5 (SCD5), a Δ-9 fatty acyl desaturase in search of a function;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2021-01
5. Enolase‐phosphatase 1 acts as an oncogenic driver in glioma;Journal of Cellular Physiology;2020-07-11
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