Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients
Haifa El Mabrouk,
Houcemeddine Othman,
Lobna Boussofarra
et al.
Abstract: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 with EB whose genetic profiles were investigated by exome sequencing. In silico analysis was condu… Show more
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