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Clinical Note
Neurology
Expanding association between
BICD2
variants and brain malformations and associated lissencephaly
Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae
Clin Exp Pediatr.
2024;67(1):54-56. Published online December 21, 2023
DOI:
https://doi.org/10.3345/cep.2023.01095
Full text
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Genetics and Metabolism
Biallelic
POLR3A
variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim
Clin Exp Pediatr.
2023;66(3):142-144. Published online December 30, 2022
Web of Science 1
Crossref 1
DOI:
https://doi.org/10.3345/cep.2022.01144
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TOPICS
Adolescence Medicine
Allergy
Cardiology
Critical Care Medicine
Developmental and Behavioral Medicine
Emergency Medicine
Endocrinology
Gastroenterology
General Pediatrics
Genetics and Metabolism
Hematology
Browse all articles >
Infection
Neonatology (Perinatology)
Nephrology (Genitourinary)
Neurology
Nutrition
Oncology
Neurobehavior
Pulmonology
Rheumatology
Other
ARTICLE CATEGORY
Perspective
Review article
Systematic review and meta-analysis
Editorial
Present Perspective on the Past Research
Original article
Letter to the editor
Clinical note
Case report
Others
Browse all articles >
BROWSE ARTICLES
Current issue
All issues
Accepted articles
Ahead-of print
Most viewed
Most downloaded
Most cited
Funded articles
Search
Author index
FOR CONTRIBUTORS
Instructions for authors
Research and publication ethics
Instructions for peer reviewers
Author’s checklist
Best article award
Best reviewer award
E-submission
Copyright transfer agreement
ABOUT
Aims and scope
About the journal
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Best practice
Open access
Subscription information
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