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. |
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| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41927119 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: 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. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kim+JH%22">Kim JH</searchLink>; Department of Pediatrics, Jeonbuk National University School of Medicine, Jeonju, Korea.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+JK%22">Kim JK</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kim+HH%22">Kim HH</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220410247%22">Annals of clinical and laboratory science</searchLink> [Ann Clin Lab Sci] 2026 Jan; Vol. 56 (1), pp. 107-113. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Institute+for+Clinical+Science%22">Institute for Clinical Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0410247 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1550-8080 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200917370%22">00917370 </searchLink><i>NLM ISO Abbreviation: </i>Ann Clin Lab Sci <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41927119 |
| RecordInfo | BibRecord: BibEntity: Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 107 Titles: – TitleFull: 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. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kim JH – PersonEntity: Name: NameFull: Park J – PersonEntity: Name: NameFull: Kim JK – PersonEntity: Name: NameFull: Kim HH IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2026 Jan Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1550-8080 Numbering: – Type: volume Value: 56 – Type: issue Value: 1 Titles: – TitleFull: Annals of clinical and laboratory science Type: main |
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