A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
Author:
Funder
Uppsala University Hospital
Spanish Ministry of Economy, Industry and Competitiveness
Sävstaholm foundation
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference25 articles.
1. SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population FEL;Ameur;Eur. J. Hum. Genet.,2017
2. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism;Ansari;J. Med. Genet.,2014
3. Toward the estimation of the absolute quality of individual protein structure models;Benkert;Bioinformatics,2011
4. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction;Bonora;Gastroenterology,2015
5. Cornelia de Lange syndrome;Boyle;Clin. Genet.,2015
Cited by 13 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. Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis;Genes;2023-12-14
2. Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases;American Journal of Medical Genetics Part A;2022-11-23
3. Essential role of MESP1-RING1A complex in cardiac differentiation;Developmental Cell;2022-11
4. Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases;The Journal of Pediatrics;2022-07
5. Potential genetic biomarkers are found to be associated with both cognitive function and blood pressure: A bivariate genome-wide association analysis;Mechanisms of Ageing and Development;2022-06
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