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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
Srivastava S et al.
European Journal of Human Genetics : Ejhg, 2016
Select a paper to view details