Konu "Autosomal Recessive" için Araştırma Çıktıları | TR-Dizin | WoS | Scopus | PubMed listeleme
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First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
(Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ...