Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
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DOI: 10.1212/nxg.0000000000000521
Abstract: Objective To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. Methods We performed whole-exome sequencing for identification of likely pathogenic mutations in a… read more here.
Keywords: severe generalized; generalized dystonia; metabolic acidosis; polr3a mutations ... See more keywords