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J Pediatr Genet 2023; 12(02): 144-149
DOI: 10.1055/s-0040-1721802
Case Report

Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

Daniel R. Carvalho
1   Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia
,
Carlos E. Speck-Martins
1   Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia
,
Bernardo J. A. F. Martins
2   Radiology Unit, SARAH Network of Rehabilitation Hospitals, Brasilia
,
Ana Paula Izumi
3   Pediatric Unit, SARAH Network of Rehabilitation Hospitals, Brasilia
,
Alessandra La Rocque-Ferreira
1   Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia
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