M. Tsvetkova

From the Microscope to the Genome: A New Era in the Molecular Genetics of Epidermolysis Bullosa

Overall, this review synthesizes the molecular basis of all four major EB types across 16+ classical genes, highlights the paradigm shift where NGS achieves a diagnostic yield exceeding 90%, and critically assesses recent therapeutic milestones—ranging from the first FDA-approved topical gene therapy to precision RNA and genome-editing modalities.