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Tags: clinical spectrum

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Exome Sequencing Reveals A Novel Wdr45 Frameshift Mutation And Inherited Polr3a Heterozygous Variants In A Female With A Complex Phenotype And Mixed Brain Mri Findings

WDR45 and POLR3A are newly recognized genes; each is associated with a distinct neurodegenerative disease. WDR45 is an X-linked gene associated with a dominant form of Neurodegeneration with Brain Iron Accumulation (NBIA), manifested by progressive…

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