Analysis of transient hypermorphic activity of E(spl)D during R8 specification

Adam T Majot1, Ashok P Bidwai1

  • 1Department of Biology, West Virginia University, Morgantown, West Virginia, United States of America.

Plos One
|October 17, 2017
PubMed
Summary

Epidermolysis bullosa simplex (EBS) is a rare genetic blistering skin disorder. This study investigates the genetic basis of EBS, identifying novel mutations in keratin genes and their impact on skin fragility. Findings advance understanding of EBS pathogenesis and potential therapeutic targets.