Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis.

<h4>Background</h4>Epidermolysis Bullosa (EB) is a rare genetic disorder that results in fragile skin and blistering and may lead to mucous membrane involvement. The disease manifests in several subtypes, among which the most serious conditions are dystrophic and junctional EB. This stud...

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Bibliographic Details
Published in:PLoS ONE
Main Authors: Nancy Shehata, Babajan Banaganapalli, Hadiah Bassam Al Mahdi, Shmoukh Alghuraibi, Mahmoud Younis, Sultana Abdulghani, Noor Ahmad Shaik, Zuhier Awan, Fahad Hakami
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-01-01
Online Access:https://doi.org/10.1371/journal.pone.0328296