Variant of <i>CHD1</i> gene resulting in a Korean case of Pilarowski-Bjornsson syndrome-Reference-Cited by-同舟云学术

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Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome

Published:2022-12-31 Issue:2 Volume:19 Page:111-114
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Sunwoo Yoon¹^ORCID,Seo Soo Hyun²^ORCID,Kim Ho-Joong³^ORCID,Park Moon Seok³^ORCID,Cho Anna⁴^ORCID

Affiliation:

1. Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea

2. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea

3. Department of Orthopedic Surgery, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea

4. Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea

Funder

National Research Foundation of Korea

Ministry of Health and Welfare

Ministry of Science and ICT

Ministry of Trade Industry and Energy

Korea Disease Control and Prevention Agency

Korea Institute for Advancement of Technology

Korean Ministry of Trade, Industry and Energy

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2022/019/jgm-19-2-111.pdf

Reference18 articles.

1. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

2. Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

3. Chromodomain Helicase DNA-Binding Proteins in Stem Cells and Human Developmental Diseases

4. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

5. ClinVar: public archive of interpretations of clinically relevant variants

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Saudi Girl With Co-occurring CHD1 (Pilarowski-Bjornsson Syndrome) and ASH1L Gene Variants;Cureus;2023-12-04

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