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
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
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