A Novel ACTB Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report.

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Title:	A Novel ACTB Truncating Variant in a Neonate with ACTB-Related Neurodevelopmental Disorder with Features Overlapping Baraitser-Winter Cerebrofrontofacial Syndrome Diagnosed Using Whole Genome Sequencing: A Case Report.
Authors:	Kim JH; Department of Pediatrics, Jeonbuk National University School of Medicine, Jeonju, Korea., Park J; Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju, Korea.; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea., Kim JK; Department of Pediatrics, Jeonbuk National University School of Medicine, Jeonju, Korea.; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea., Kim HH; Department of Pediatrics, Jeonbuk National University School of Medicine, Jeonju, Korea hyunhokim@jbnu.ac.kr.; Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Korea.; Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Source:	Annals of clinical and laboratory science [Ann Clin Lab Sci] 2026 Jan; Vol. 56 (1), pp. 107-113.
Publication Type:	Journal Article; Case Reports
Journal Info:	Publisher: Institute for Clinical Science Country of Publication: United States NLM ID: 0410247 Publication Model: Print Cited Medium: Internet ISSN: 1550-8080 (Electronic) Linking ISSN: 00917370 NLM ISO Abbreviation: Ann Clin Lab Sci Subsets: MEDLINE
Database:	MEDLINE Ultimate

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ISSN:	1550-8080