Clinical spectrum of individuals with de novo EBF3 variants or deletions-Reference-Cited by-同舟云学术

Clinical spectrum of individuals with de novo EBF3 variants or deletions

Published:2021-05-29 Issue:10 Volume:185 Page:2913-2921
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Nishi Eriko¹^ORCID,Uehara Tomoko²^ORCID,Yanagi Kumiko³,Hasegawa Yuiko¹,Ueda Kimiko¹^ORCID,Kaname Tadashi³^ORCID,Yamamoto Toshiyuki⁴^ORCID,Kosaki Kenjiro²,Okamoto Nobuhiko¹

Affiliation:

1. Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan

2. Department of Pediatrics Keio University School of Medicine Tokyo Japan

3. Department of Genome Medicine National Center for Child Health and Development Tokyo Japan

4. Department of Genomic Medicine Tokyo Women's Medical University Tokyo Japan

Funder

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62369

Reference9 articles.

1. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: Patient report, in silico functional assessment, and review of published cases;Blackburn P. R.;Cold Spring Harbor Molecular Case Studies,2017

2. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

3. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

4. Utility of the Kyoto Scale of Psychological Development in cognitive assessment of children with pervasive developmental disorders

5. Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease

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