Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.

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Bibliographic Details
Title: Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview.
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
Description
ISSN:1473-5717
DOI:10.1097/MCD.0000000000000547