G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome

Published:2018-12-19 Issue:2 Volume:46 Page:154-157
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Xie Ming-xing¹,Yang Wei-ping²,Luo Hao-jie³,Ismail Ferina⁴,Hao Yang-yang³,Yang Jian-qiang³^ORCID

Affiliation:

1. Department of Dermatology; Changxing Hospital; Huzhou China

2. Department of Stomatology; The First Affiliated Hospital of Huzhou University; Huzhou China

3. Department of Dermatology; The First Affiliated Hospital of Huzhou University; Huzhou China

4. Department of Dermatology; The Royal London Hospital; London UK

Funder

The Medical Innovation Foundation of Huzhou in China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.14727/fullpdf

Reference15 articles.

1. D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome;Qiu;Indian J Dermatol Venereol Leprol,2012

2. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families;Maestrini;Hum Mol Genet,1999

3. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome;Alexandrino;Am J Med Genet A,2005

4. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin;Bondeson;Acta Derm Venereol,2006

5. Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review;Yang;Int J Dermatol,2014

Cited by 5 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. Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions;Frontiers in Physiology;2024-05-07

2. Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China;INQUIRY: The Journal of Health Care Organization, Provision, and Financing;2022-01

3. Targeted sequencing of CDH23 and GJB2 genes in an Iranian pedigree with Usher syndrome and non-syndromic hearing loss;Gene Reports;2021-06

4. Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case;The Journal of Dermatology;2020-07-23

5. Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2;Dermatologica Sinica;2020

同舟云学术

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