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Article

Functional genotype-phenotype associations in recessive dystrophic epidermolysis bullosa.

Journal of the American Academy of Dermatology - 1 Sept 2024

So Jodi Y, Nazaroff Jaron, Yenamandra Vamsi K, Gorell Emily S, Harris Nicki, Fulchand Shivali, Eid Edward, Dolorito John A, Marinkovich M Peter, Tang Jean Y

Abstract excerpt

BACKGROUND: Genotype-phenotype associations in recessive dystrophic epidermolysis bullosa (RDEB) have been difficult to elucidate. OBJECTIVE: To investigate RDEB genotype-phenotype associations and explore a functional approach to genotype classification. METHODS: Clinical examination and genetic testing of RDEB subjects, including assessment of clinical disease by RDEB subtype and extent of blistering. Genotypes...

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Identifiers

PMID: 38735484
DOI: 10.1016/j.jaad.2024.04.073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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