R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene
Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs
www.medrxiv.org/content/10.1...
R-loop forming regions genes #RNU2-2 and #RNU5B-1 novel non-coding NDD genes #MorbidGene
Clinical features of these new "RNU"pathies
- Hypotonia, macrocephaly, seizures, FTT
- explain 10-15 / 1000 rare NDDs
www.medrxiv.org/content/10.1...