Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

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Title: Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.
Authors: Hong J; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea., Lee S; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Kim SY; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Kim T; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea., Shin WH; Department of Biomedical Informatics, Korea University College of Medicine, Seoul, Korea., Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Park JH; Department of Biological Science, Ajou University, Suwon, Korea., Jang D; Research Institute of Basic Sciences, Ajou University, Suwon, Korea., Park G; Department of Applied BioTechnology, Ajou University, Suwon, Korea., Cha JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Cho JS; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea., Cho A; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea., Kim H; Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea., Woo H; Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea., Kim JS; Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea., Lim BC; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea., Lee JE; Department of Pediatrics, Inha University College of Medicine, Inha University Hospital, Incheon, Korea., Kim M; Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea., Cheon CK; Department of Pediatrics, Pusan National University Children's Hospital, Pusan National College of Medicine, Yangsan, Korea., Choi J; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, Korea., Chae JH; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.
Source: Clinical genetics [Clin Genet] 2026 Jul; Vol. 110 (1), pp. 90-95. Date of Electronic Publication: 2026 Feb 23.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1399-0004
DOI:10.1111/cge.70154