Browsing Health Sciences by Author "Undiagnosed Diseases Network"
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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease : functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
Kozycki, Christina Torres; Poswar, Fabiano de Oliveira; Schwartz, Ida Vanessa Doederlein; Alves, Tamires Silva; Undiagnosed Diseases Network (2022) [Journal article]Objectives: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1, is an autoinflammatory disease. Methods: This ...