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
Neurodevelopmental profile of HIVEP2-related disorder.
Mo A et al.
Developmental Medicine and Child Neurology, 2022
Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study.
Gong P et al.
Frontiers in Genetics, 2021
Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
Goldsmith H et al.
American Journal of Medical Genetics. Part A, 2019
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