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

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: Follow...

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Detalles Bibliográficos
Autores principales: Zhao, Caichou, Cao, Shuanglin, Gao, Xinghua, Xu, Xuegang, Gu, Lixiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655508/
https://www.ncbi.nlm.nih.gov/pubmed/37676173
http://dx.doi.org/10.1002/mgg3.2258