Erythrokeratodermia Variabilis et Progressiva 4 With <scp>KDSR</scp> Mutations: A Case Report

The data that support the findings of this study are available from the corresponding author upon reasonable request. Figure S1: Protein structural analysis. Mutations in the KDSR gene cause amino acid alterations at positions 45 and 51, leading to an altered hydrogen bonding network structure. Figure S2: Protein structural analysis. The structure of the wild-type KDSR protein. Figure S3: Conservation analysis. Both residue 45 and residue 51 are conserved across species. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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Publication Details

Journal
The Journal of Dermatology
Published
2026-03-11
DOI
https://doi.org/10.1111/1346-8138.70200
Primary Topic
Connexins and lens biology
Type
article
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0.00
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article

Erythrokeratodermia Variabilis et Progressiva 4 With KDSR Mutations: A Case Report

Zhe Xu, Jiaying Li, Chaoyang Miao, Weiqi Ren
The Journal of Dermatology
Connexins and lens biology
article

Erythrokeratodermia Variabilis et Progressiva 4 With KDSR Mutations: A Case Report

Zhe Xu, Jiaying Li, Chaoyang Miao, Weiqi Ren
article en

Abstract

The data that support the findings of this study are available from the corresponding author upon reasonable request. Figure S1: Protein structural analysis. Mutations in the KDSR gene cause amino acid alterations at positions 45 and 51, leading to an altered hydrogen bonding network structure. Figure S2: Protein structural analysis. The structure of the wild-type KDSR protein. Figure S3: Conservation analysis. Both residue 45 and residue 51 are conserved across species. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

The Journal of Dermatology
Beijing Children’s Hospital (CN)
Life in Land
Openalex Percentile: Top 25%
Connexins and lens biology
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Erythrokeratodermia Variabilis et Progressiva 4 With <scp>KDSR</scp> Mutations: A Case Report — Zhe Xu, Jiaying Li, et al. · The Journal of Dermatology (2026) | TGRS Research Map | TGRS