Article

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

2020-11-10

Abstract excerpt

We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood.

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Literature Corpus work: 7c098682-4deb-5fe3-ba3f-b6a5e9a5c14e
DOI: 10.17615/g610-9d13

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