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Article

Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients.

American journal of medical genetics. Part A - 1 May 2025

El Mabrouk Haifa, Othman Houcemeddine, Boussofarra Lobna, Gribaa Moez, Saad Ali, Denguezli Mohamed, Has Cristina, H'mida Dorra

Abstract excerpt

Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care. Our study cohort includes 10 Tunisian patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39688128
DOI: 10.1002/ajmg.a.63967

Genes

COL7A1
DST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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