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Article

Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review.

JAMA dermatology - 1 Mar 2026

Heppell Cara, Hou Ping-Chen, Longmore Aimée, Shafik Lidia, Ali Fatima, Subramaniam Kavita S, Antoniou Michael, Hsu Chao-Kai, Mellerio Jemima E, McGrath John A, Lwin Su M

Abstract excerpt

Importance: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder with wide clinical heterogeneity, ranging from localized skin fragility to life-limiting systemic complications. Understanding genotype-phenotype correlations in COL7A1, the causative gene, is critical for clinical prognostication, genetic counseling, and the rational design of emerging molecular therapies....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41637086
DOI: 10.1001/jamadermatol.2025.5723

Genes

COL7A1

Provenance

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Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review.PMID 41637086Read ↗

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An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.Semantic proximity Read ↗

Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.Semantic proximity Read ↗

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