Associated Papers
A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.
Bonde LD et al.
Hgg Advances, 2026
41383020 (PubMed )
Supplement: mmc2.pdf
New ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.
Rahman ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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