Article

Clinical and Genetic Characteristics of Pediatric Patients with Vanishing White Matter Disease: A Retrospective Single-Center Study

2026-03-10

Abstract excerpt

<title>Abstract</title> <p> Objective Vanishing White Matter Disease (VWM) is a rare autosomal recessive leukoencephalopathy caused by pathogenic variants in the <italic>EIF2B</italic> gene complex. This study aimed to describe the clinical, radiological, and genetic characteristics of four genetically confirmed pediatric patients with VWM who were followed up at our center. Materials and Methods Medical rec...

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Literature Corpus work: 939cfc04-1ce6-51a6-bda1-59d34d117a6e
DOI: 10.21203/rs.3.rs-8978347/v1

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