Abstract
Distinct cerebrovascular features in patients with ADA2 deficiency
Highlights
Mutations of CECR1 have been recently reported as causative of an inflammatory condition characterized by an early onset vasculopathy resembling polyarteritis nodosa
The clinical manifestations of the disease are heterogeneous with a wide range of severity
Gaslini Institute, 2nd Division of Pediatrics, Genova, Italy
Summary
To describe the neuroradiologic features of patients affected by ADA2 deficiency with central nervous system (CNS) involvement
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