The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant
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DOI: 10.3390/genes14040822
Abstract: Biallelic variants in the mitochondrial form of the tryptophanyl-tRNA synthetases (WARS2) can cause a neurodevelopmental disorder with movement disorders including early-onset tremor–parkinsonism syndrome. Here, we describe four new patients, who all presented at a young… read more here.
Keywords: novel; wars2 related; phenotypical spectrum; variant 015836 ... See more keywords