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

Abstract excerpt

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterised by skin fragility, caused by pathogenic variants in genes encoding structural components of the dermo-epidermal junction. With the advent of next-generation sequencing (NGS), the diagnostic paradigm has shifted from a morphological to a genotype-oriented approach. This review summarises the genetic architecture of EB, the type...

Topics

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• Autoimmune Bullous Skin Diseases
• Genetic and rare skin diseases.
• Skin and Cellular Biology Research

Identifiers and source

Literature Corpus work

e2b31813-73bf-56b6-a4fb-2417315fcd6b

DOI

10.3390/ijms27177591