Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.
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| Title: | Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview. |
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| Authors: | Gladkauskas T; Bergen Center for Medical Stem Cell Research.; Department of Clinical Medicine, University of Bergen., Cristea I; Bergen Center for Medical Stem Cell Research.; Department of Clinical Medicine, University of Bergen., Mehrasa R; Department of Clinical Medicine, University of Bergen., Bruland O; Department of Medical Genetics, Haukeland University Hospital, Bergen., Rustad CF; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon Bourgogne.; INSERM UMR1231 GAD, Université Bourgogne Europe, FHU TRANSLAD, Dijon, France., Rødahl E; Department of Clinical Medicine, University of Bergen.; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway., Bredrup C; Bergen Center for Medical Stem Cell Research.; Department of Clinical Medicine, University of Bergen.; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway. |
| Source: | Clinical dysmorphology [Clin Dysmorphol] 2026 Apr 01; Vol. 35 (2), pp. 47-55. Date of Electronic Publication: 2025 Dec 12. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41223009 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gladkauskas+T%22">Gladkauskas T</searchLink>; Bergen Center for Medical Stem Cell Research.; Department of Clinical Medicine, University of Bergen.<br /><searchLink fieldCode="AU" term="%22Cristea+I%22">Cristea I</searchLink>; Bergen Center for Medical Stem Cell Research.; Department of Clinical Medicine, University of Bergen.<br /><searchLink fieldCode="AU" term="%22Mehrasa+R%22">Mehrasa R</searchLink>; Department of Clinical Medicine, University of Bergen.<br /><searchLink fieldCode="AU" term="%22Bruland+O%22">Bruland O</searchLink>; Department of Medical Genetics, Haukeland University Hospital, Bergen.<br /><searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon Bourgogne.; INSERM UMR1231 GAD, Université Bourgogne Europe, FHU TRANSLAD, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Rødahl+E%22">Rødahl E</searchLink>; Department of Clinical Medicine, University of Bergen.; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway.<br /><searchLink fieldCode="AU" term="%22Bredrup+C%22">Bredrup C</searchLink>; Bergen Center for Medical Stem Cell Research.; Department of Clinical Medicine, University of Bergen.; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229207893%22">Clinical dysmorphology</searchLink> [Clin Dysmorphol] 2026 Apr 01; Vol. 35 (2), pp. 47-55. <i>Date of Electronic Publication: </i>2025 Dec 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9207893 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-5717 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209628827%22">09628827 </searchLink><i>NLM ISO Abbreviation: </i>Clin Dysmorphol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41223009 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1097/MCD.0000000000000547 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 47 Titles: – TitleFull: Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gladkauskas T – PersonEntity: Name: NameFull: Cristea I – PersonEntity: Name: NameFull: Mehrasa R – PersonEntity: Name: NameFull: Bruland O – PersonEntity: Name: NameFull: Rustad CF – PersonEntity: Name: NameFull: Faivre L – PersonEntity: Name: NameFull: Rødahl E – PersonEntity: Name: NameFull: Bredrup C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2026 Apr 01 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1473-5717 Numbering: – Type: volume Value: 35 – Type: issue Value: 2 Titles: – TitleFull: Clinical dysmorphology Type: main |
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