Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review
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DOI: 10.3390/brainsci12091262
Abstract: Background: This work aims to describe the clinico-radiological phenotype of UBTF c.628G>A (p.Glu210Lys) pathogenic variant-related neurodegeneration in childhood. Methods: We describe the progress of clinical and neuroimaging features in a male individual who had childhood-onset… read more here.
Keywords: pathogenic variant; childhood; ubtf 628g; radiological phenotype ... See more keywords