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
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
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.
Brakta S et al.
Molecular and Cellular Endocrinology, 2024
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
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
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
Abdulkareem AA et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Salpietro V et al.
Brain : a Journal of Neurology, 2017
Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
Anttonen AK et al.
Brain : a Journal of Neurology, 2017
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Anttonen AK et al.
Brain : a Journal of Neurology, 2017