Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
Adriana A. de Jesus, Guibin Chen, Dan Yang…·Raphaela T. Goldbach‐Mansky
This study identifies de novo LYN variants causing constitutive Lyn kinase activation, leading to neutrophilic vasculitis and liver fibrosis, and shows therapeutic response to Src kinase inhibitors.
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