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
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome.
Dreggors-Walker RE et al.
The Journal of Biological Chemistry, 2022
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
Õunap K et al.
European Journal of Medical Genetics, 2020
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