The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics
Author:
Affiliation:
1. Genetics and Genomic Medicine; UCL Institute of Child Health; London U.K
2. Paediatric Dermatology; Great Ormond St Hospital for Children; London U.K
Funder
Wellcome Trust
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15260/fullpdf
Reference9 articles.
1. Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis;Thomas;J Invest Dermatol,2016
2. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ;Shirley;N Engl J Med,2013
3. Phakomatosis pigmentovascularis: implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes;Hall;Am J Med Genet A,2007
4. The Mongolian spot: a study of ethnic differences and a literature review;Cordova;Clin Pediatr,1981
5. Mongolian spots - a prospective study;Gupta;Pediatr Dermatol,2013
Cited by 6 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. Response to Torchia;Journal of Investigative Dermatology;2023-12
2. Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation;Journal of Investigative Dermatology;2020-05
3. Mosaic Disorders of Pigmentation;Harper's Textbook of Pediatric Dermatology;2019-11-20
4. An Introduction to Mosaicism;Harper's Textbook of Pediatric Dermatology;2019-11-20
5. Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics;Journal of Investigative Dermatology;2018-04
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