PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants (DYT‐PRKRA)
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DOI: 10.1002/mdc3.13426
Abstract: A genetic etiology of isolated dystonia is suspected if there is an early-onset dystonia or a positive family history. However, the cur-rent overall yield of a genetic etiological diagnosis remains below 30%. 1 We present… read more here.
Keywords: diagnosis; prkrap1 pseudogene; pseudogene complicating; onset dystonia ... See more keywords