Article

New<i>ZNHIT3</i>Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops

2024-08-26

Abstract excerpt

ZNHIT3 (zinc finger HIT type containing protein 3) is an evolutionarily conserved protein required for ribosome biogenesis by mediating the assembly of small nucleolar RNAs (snoRNAs) of class C/D into ribonucleoprotein complexes (snoRNPs). Missense mutations in the gene encoding ZNHIT3 protein have been previously reported to cause PEHO syndrome, a severe neurodevelopmental disorder typically presenting after birt...

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Literature Corpus work: cd57e007-dfb3-5408-ad62-b85b07f0c928
DOI: 10.1101/2024.08.26.24312490

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New<i>ZNHIT3</i>Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated HydropsDOI 10.1101/2024.08.26.24312490Read

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