A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa
Author:
Affiliation:
1. Stamford Skin and Medical Centre; Ho Chi Minh City Vietnam
2. Department of Human Genetics; Graduate School of Public Health; University of Pittsburgh; Pittsburgh Pennsylvania
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12334/fullpdf
Reference7 articles.
1. Cutis laxa: a review;Berk;J Am Acad Dermatol,2012
2. The complexity of elastic fibre biogenesis in the skin-a perspective to the clinical heterogeneity of cutis laxa;Uitto;Exp Dermatol,2013
3. The complexity of elastic fiber biogenesis: the paradigm of cutis laxa;Urban;J Invest Dermatol,2012
4. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations;Callewaert;Hum Mutat,2011
5. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene;Szabo;J Med Genet,2006
Cited by 4 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. Severe atopic dermatitis with cutis laxa caused by a variant in the ELN gene;JAAD Case Reports;2024-04
2. Pseudoxanthoma Elasticum and Cutis Laxa;Harper's Textbook of Pediatric Dermatology;2019-11-20
3. A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report;BMC Dermatology;2019-01-31
4. A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review;Clinical Dysmorphology;2017-07
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