NIH: 27 pts w/ ROSAH (retinal dystrophy, optic N. edema, splenomegaly, anhidrosis, headache) syndrome, due to dominant m
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NIH: 27 pts w/ ROSAH (retinal dystrophy, optic N. edema, splenomegaly, anhidrosis, headache) syndrome, due to dominant mutation ALPK1 - an autoinflammatory Dz w fevers, HA, Abnl CNS MRI, deforming arthritis, AA amyloidosis . https://t.co/Pyb3QNrPnB https://t.co/wxtwOGpKFr
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