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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing

11 Mar 2024

Abstract excerpt

BACKGROUND: Genome diagnostics is considered gold standard diagnostics for epidermolysis bullosa (EB), a phenotypically and genetically heterogeneous group of rare disorders characterized by blistering and wounding of mucocutaneous tissues. EB is caused by pathogenic variants in genes encoding proteins of the dermo-epidermal junction. Accurate genetic diagnosis of EB is crucial for prognostication, counselling...

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PMID: 38465480
DOI: 10.1111/jdv.19938

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