Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

doi:10.1093/bjd/ljaf015

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Article

Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

The British journal of dermatology - 28 Apr 2025

Pathmarajah Pirunthan, Eid Edward, Nazaroff Jaron, So Jodi, Mittal Vaishali, Harris Nicki, Li Shufeng, Lucky Anne W, Gorell Emily S, Peoples Kathleen G, Pope Elena, Lara-Corrales Irene, Paller Amy S, Wiss Karen, Perman Marissa J, Eichenfield Lawrence F, Levy Moise L, Morel Kimberly D, García-Romero Maria T, McCuaig Catherine C, Saber Melissa, Marinkovich M Peter, Oro Anthony, Bruckner Anna L, Tang Jean Y

Abstract excerpt

BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by pathogenic variants in COL7A1. OBJECTIVES: To determine the association between different COL7A1 variants and clinical disease severity in 236 North American patients with RDEB. METHODS: Published reports or in silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7)...

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Identifiers

PMID: 39790012
DOI: 10.1093/bjd/ljaf015
PMCID: PMC12036767

Genes

C7
COL7A1

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