Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations

Published:2019-05-12 Issue:3 Volume:181 Page:623-624
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Has C.¹^ORCID,Küsel J.²,Happle R.¹,Steinke H.¹,Technau‐Hafsi K.¹,Fischer J.²

Affiliation:

1. Department of Dermatology Medical Center – University of Freiburg Faculty of Medicine Hauptstraße 7 79104 Freiburg Germany

2. Institute for Human Genetics Medical Center – University of Freiburg Faculty of Medicine Hauptstraße 7 79104 Freiburg Germany

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.17838

Reference8 articles.

1. Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

2. Porokeratotic Eccrine Nevus May Be Caused by Somatic Connexin26 Mutations

3. A Novel N14Y Mutation in Connexin26 in Keratitis-Ichthyosis-Deafness Syndrome

4. Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes

5. A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation

Cited by 3 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. Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma;Journal of the European Academy of Dermatology and Venereology;2023-02-17

2. Parental mosaic cutaneous‐gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis‐deafness syndrome;The Journal of Dermatology;2021-12-09

3. Quoi de neuf en dermatologie pédiatrique ?;Annales de Dermatologie et de Vénéréologie;2019-12

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