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5 articles related to "Epidermolysis Bullosa Simplex"

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Articles

Brief Research Report

Published on 29 Nov 2021

Damaged Keratin Filament Network Caused by KRT5 Mutations in Localized Recessive Epidermolysis Bullosa Simplex

in Genetics of Common and Rare Diseases

Fuying Chen
Lei Yao
Xue Zhang
Yan Gu
Hong Yu
Zhirong Yao
Jia Zhang
Ming Li

Frontiers in Genetics

doi 10.3389/fgene.2021.736610

5,565 views
7 citations

Case Report

Published on 05 Nov 2021

Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex

in Genetics of Common and Rare Diseases

Xiaojing Xu
Juan Zhao
Chao Wang
Xiaoxuan Qu
Menglong Ran
Fang Ye
Ming Shen
Kundi Wang
Qi Zhang

Frontiers in Genetics

doi 10.3389/fgene.2021.729628

3,795 views
6 citations

Case Report

Published on 29 Jul 2024

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families

in Dermatology

Yulia Y. Kotalevskaya
Vadim A. Stepanov

Frontiers in Medicine

doi 10.3389/fmed.2024.1418239

1,890 views
2 citations

Brief Research Report

Published on 05 Feb 2026

A novel variant c.A527G in ITGB4 leads to autosomal dominant epidermolysis bullosa in China

in Dermatology

Juyi Li
Xiawen Yang
Yimin He
Peng Cheng
Hengfei Li
Aiping Deng
Xiufang Wang
Wei Cai
Jifa Hu
Qiu Tang

Frontiers in Medicine

doi 10.3389/fmed.2025.1726208

474 views

Case Report

Published on 23 Mar 2023

Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review

in Genetics of Common and Rare Diseases

Caiyun Luo
Liucheng Yang
Zhaorong Huang
Yuqian Su
Yi Lu
Daiyue Yu
Mengzhen Zhang
Kai Wu

Frontiers in Pediatrics

doi 10.3389/fped.2023.1098273

4,924 views
8 citations