Review paper
Clinical spectrum of POLR3-related leukodystrophy caused by biallelicPOLR1Cpathogenic variants
Abstract
To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants.A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular information was collected on 23 unreported and previously reported patients with POLR3-HLD and biallelic pathogenic variants in POLR1C. Brain MRI studies were...
Paper Details
Title
Clinical spectrum of POLR3-related leukodystrophy caused by biallelicPOLR1Cpathogenic variants
Published Date
Dec 1, 2019
Journal
Volume
5
Issue
6
Citation AnalysisPro
You’ll need to upgrade your plan to Pro
Looking to understand the true influence of a researcher’s work across journals & affiliations?
- Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
- Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.
Notes
History