PRKRAP1 Pseudogene Complicating the Diagnosis of Young‐Onset Dystonia Due to PRKRA Gene Disease‐Causing Variants (DYT‐PRKRA)
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
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
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.945296
Abstract: A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity of uniparental origin that may harbour… read more here.
Keywords: uniparental disomy; homozygous variants; prkra; chromosome ... See more keywords