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Article

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

International journal of molecular sciences - 25 Aug 2026

Tsvetkova Maria, Dimitrova Tsonka, Yaneva Galina

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...

Read the complete abstract on PubMed

Topics

Humans
Epidermolysis Bullosa
High-Throughput Nucleotide Sequencing
Mutation
Genetic Therapy
Gene Editing

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Identifiers

PMID: 42737493
DOI: 10.3390/ijms27177591
PMCID: PMC13566120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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