James Poulter
@japoulter.bsky.social
Associate Professor of Genomic Medicine at the University of Leeds.
Reposted by James Poulter
First up: Mathieu Quinodoz, variants in RNU4-2 and 4 U6 genes cause dominant retinitis pigmentosa - 1.4% of undiagnosed.
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
www.medrxiv.org
May 25, 2025 at 8:45 AM
First up: Mathieu Quinodoz, variants in RNU4-2 and 4 U6 genes cause dominant retinitis pigmentosa - 1.4% of undiagnosed.
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025
Likely a different mechanism than NDD - delayed tri-snRNP formation.
Preprint: www.medrxiv.org/content/10.1...
@carlorivolta.bsky.social @susanneroosing.bsky.social #eshg2025