Expanding the phenotype of intellectual disability caused by HIVEP2 variants-Reference-Cited by-同舟云学术

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

Published:2019-06-17 Issue:9 Volume:179 Page:1872-1877
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Goldsmith Heidi¹,Wells Anna²,Sá Maria J. N.³,Williams Mark⁴⁵,Heussler Helen⁶⁷,Buckman Melissa⁸,Pfundt Rolph³,de Vries Bert B. A.³,Goel Himanshu¹²^ORCID

Affiliation:

1. Hunter Genetics; Waratah New South Wales Australia

2. University of Newcastle; Callaghan New South Wales Australia

3. Department of Human Genetics; Radboud University Medical Center (Radboudumc); Nijmegen The Netherlands

4. Mater Research Institute, The University of Queensland; Woolloongabba Queensland Australia

5. Genetic Pathology, Mater Pathology; South Brisbane Queensland Australia

6. Child Development Program; Queensland Children's Hospital; South Brisbane Queensland Australia

7. Child Health Research Centre; The University of Queensland; South Brisbane Queensland Australia

8. Genetic Counselling Service; Tamworth New South Wales Australia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61271/fullpdf

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1. Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report;Frontiers in Genetics;2023-06-27

2. Expanding the Phenotypic Spectrum of <b><i>HIVEP2</i></b>-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature;Molecular Syndromology;2022

3. Neurodevelopmental profile of HIVEP2‐related disorder;Developmental Medicine & Child Neurology;2021-10-26

4. New genes involved in Angelman syndrome-like: Expanding the genetic spectrum;PLOS ONE;2021-10-15

5. Genetic Etiologies in Developmental and/or Epileptic Encephalopathy With Electrical Status Epilepticus During Sleep: Cohort Study;Frontiers in Genetics;2021-04-08