March 3, 2026

A Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant

Key Points

Epidermal differentiation disorder presents with KRT2 and GJB4 variants, highlighting genetic complexity.
Key mutations identified include KRT2 and GJB4, showing unique clinical features in the patient.
Analysis combines Sanger sequencing and immunofluorescence techniques to investigate genetic basis.
Findings emphasize the need for further studies to understand variant interactions and clinical implications.

Abstract

The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions. Data S1: The materials and methods used for Sanger sequencing and immunofluorescence antigen mapping of connexin 30.3 are briefly explained. 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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Cite This Study

Saito et al. (Tue,) studied this question.

synapsesocial.com/papers/69a75ae6c6e9836116a21566 https://doi.org/https://doi.org/10.1111/1346-8138.70163

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