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View article: Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies
Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies Open
View article: Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic co…
View article: 425 Optimization of gentamicin therapy for recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations
425 Optimization of gentamicin therapy for recessive dystrophic epidermolysis bullosa patients harboring nonsense mutations Open
View article: 237 Diagnostic challenge of compound heterozygosity for dominant and recessive COL7A1 mutations in dystrophic epidermolysis bullosa
237 Diagnostic challenge of compound heterozygosity for dominant and recessive COL7A1 mutations in dystrophic epidermolysis bullosa Open