Novel D323G mutation ofDSG4gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
Author:
Affiliation:
1. Department of Dermatology; Nanfang Hospital; Southern Medical University; Guangzhou Guangdong China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Dermatology
Reference16 articles.
1. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris;Kljuic;Cell,2003
2. A locus for hereditary hypotrichosis localized to human chromosome 18q21.1;Rafique;Eur J Hum Genet,2003
3. Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family;Wajid;J Invest Dermatol,2007
4. A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis;Messenger;J Invest Dermatol,2005
5. A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis;Moss;J Invest Dermatol,2004
Cited by 8 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. <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case;Current Pediatrics;2023-11-05
2. Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families;Molecular Genetics & Genomic Medicine;2022-02-11
3. The disrupted balance between hair follicles and sebaceous glands in Hoxc13 ‐ablated rabbits;The FASEB Journal;2018-08-20
4. Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology;Australasian Journal of Dermatology;2018-02-05
5. MOLECULAR BASIS OF HAIR LOSS-A MINI REVIEW;INDO AM J PHARM SCI;2018
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