Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa

• Published in: European journal of human genetics : EJHG
• Main Authors: Pironon, Nathalie, Gasparyan, Artyom, Yubero, María Joao, Duchatelet, Sabine, Hovhannesyan, Kristina, Leclerc-Mercier, Stephanie, Kostandyan, Natella, Palisson, Francis, Sarkisian, Tamara, Titeux, Matthias, Fuentes, Ignacia, Hovnanian, Alain
• Format: Journal Article
• Language: English
• Published: England 05.12.2024

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 complications. RDEB is caused by loss-of-function mutations in...