The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.
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| Title: | The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. |
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| Authors: | Dukuze N; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda.; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium., Hitayezu J; Department of Pediatrics, University Teaching Hospital of Kigali (CHUK), Kigali P.O. Box 655, Rwanda., Uyisenga JP; Department of Biology, College of Science and Technology, University of Rwanda, Kigali P.O. Box 3900, Rwanda., Uwibambe E; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda., Caberg JH; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium., Dideberg V; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium., Bours V; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium., Alagbonsi AI; Department of Physiology, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 3286, Rwanda., Mutesa L; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda., Uwineza A; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda. |
| Source: | Genes [Genes (Basel)] 2026 Apr 07; Vol. 17 (4). Date of Electronic Publication: 2026 Apr 07. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42074547 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Dukuze+N%22">Dukuze N</searchLink>; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda.; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Hitayezu+J%22">Hitayezu J</searchLink>; Department of Pediatrics, University Teaching Hospital of Kigali (CHUK), Kigali P.O. Box 655, Rwanda.<br /><searchLink fieldCode="AU" term="%22Uyisenga+JP%22">Uyisenga JP</searchLink>; Department of Biology, College of Science and Technology, University of Rwanda, Kigali P.O. Box 3900, Rwanda.<br /><searchLink fieldCode="AU" term="%22Uwibambe+E%22">Uwibambe E</searchLink>; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.<br /><searchLink fieldCode="AU" term="%22Caberg+JH%22">Caberg JH</searchLink>; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Dideberg+V%22">Dideberg V</searchLink>; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Bours+V%22">Bours V</searchLink>; Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Alagbonsi+AI%22">Alagbonsi AI</searchLink>; Department of Physiology, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 3286, Rwanda.<br /><searchLink fieldCode="AU" term="%22Mutesa+L%22">Mutesa L</searchLink>; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda.<br /><searchLink fieldCode="AU" term="%22Uwineza+A%22">Uwineza A</searchLink>; Center for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.; Department of Biochemistry, Molecular Biology and Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 4285, Rwanda. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Apr 07; Vol. 17 (4). <i>Date of Electronic Publication: </i>2026 Apr 07. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42074547 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes17040429 Languages: – Code: eng Text: English Titles: – TitleFull: The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dukuze N – PersonEntity: Name: NameFull: Hitayezu J – PersonEntity: Name: NameFull: Uyisenga JP – PersonEntity: Name: NameFull: Uwibambe E – PersonEntity: Name: NameFull: Caberg JH – PersonEntity: Name: NameFull: Dideberg V – PersonEntity: Name: NameFull: Bours V – PersonEntity: Name: NameFull: Alagbonsi AI – PersonEntity: Name: NameFull: Mutesa L – PersonEntity: Name: NameFull: Uwineza A IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 04 Text: 2026 Apr 07 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2073-4425 Numbering: – Type: volume Value: 17 – Type: issue Value: 4 Titles: – TitleFull: Genes Type: main |
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