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Article

Identification of a novel COL7A1 variant associated with dystrophic epidermolysis bullosa pruriginosa responding effectively to dupilumab.

Molecular genetics & genomic medicine - 1 Nov 2023

Zhao Caichou, Cao Shuanglin, Gao Xinghua, Xu Xuegang, Gu Lixiong

Abstract excerpt

BACKGROUND: Variants in COL7A1 cause an extremely rare and clinically heterogeneous syndrome known as dystrophic epidermolysis bullosa pruriginosa (DEB-Pr). Duplilumab, a fully humanized anti-IL-4Ra monoclonal antibody, can inhibit IL-4 and IL-13-driven signaling. METHODS: Ethical Compliance: Following our Institutional Review Board, genetic testing has been made available after completing a signed informed...

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PMID: 37676173
DOI: 10.1002/mgg3.2258
PMCID: PMC10655508

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