Associated Papers
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.
Abreu M et al.
Frontiers in Genetics, 2023
37441550 (PubMed )
Supplement: DataSheet2.PDF
Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.
Quental R et al.
Molecular Syndromology, 2022
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › _5_position
Neurodevelopmental profile of HIVEP2-related disorder.
Mo A et al.
Developmental Medicine and Child Neurology, 2022
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Park J et al.
Molecular Syndromology, 2019
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Steinfeld H et al.
Neurogenetics, 2016
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