Novel autoinflammatory disease with an ALPK1 gain-of-function mutation:
▶️ R etinal dystrophy
▶️ O ptic nerve oedema
▶️ S plenomegaly
▶️ A nhidrosis
▶️ H eadache
https://t.co/9GbjZLMFCo https://t.co/Bh0MkYmrDA
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25-07-2022
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