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Article

A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.

BMC medical genomics - 4 Feb 2025

Sattar Saira, Bharadwaj Thashi, Kalsoom Umm-E-, Acharya Anushree, Khan Saadullah, Leal Suzanne M, Schrauwen Isabelle

Abstract excerpt

Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120). Both autosomal dominant and recessive inheritance has been reported with variable phenotype. We investigated a Pakistani family with dystrophic epidermolysis bullosa via exome sequencing and identified a pathogenic nonsense variant in COL7A1...

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Identifiers

PMID: 39905456
DOI: 10.1186/s12920-024-02077-1
PMCID: PMC11796174

Genes

COL7A1

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