Recurrent platelet-derived growth factor receptor beta gene mutations in Kosaki overgrowth syndrome: a molecular and clinical overview
Recurrent PDGFRB variants in KOGS cause ligand-independent activation of PDGFRβ, contributing to the overgrowth phenotype. Imatinib may represent a potential targeted therapeutic option.
Authors
- Cecilie Bredrup (ORCID: https://orcid.org/0000-0002-2388-0181)
- Cecilie F. Rustad (ORCID: https://orcid.org/0000-0001-7903-9087)
- Ileana Cristea (ORCID: https://orcid.org/0000-0003-1163-0393)
- Eyvind Rødahl (ORCID: https://orcid.org/0000-0003-1025-4840)
- Titas Gladkauskas (ORCID: https://orcid.org/0009-0002-8595-4489)
- Ove Bruland (ORCID: https://orcid.org/0000-0002-9943-9034)
- Roya Mehrasa (ORCID: https://orcid.org/0000-0003-4090-5114)
- Laurence Faivre
Institutions
- Inserm (FR)
- Université de Bourgogne (FR)
- Haukeland University Hospital (NO)
- CHU Dijon Bourgogne (FR)
- Telemark Hospital (NO)
- Stem Cell Institute (PA)
- University of Bergen (NO)
Publication Details
- Journal
- Clinical Dysmorphology
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1097/mcd.0000000000000547
- Primary Topic
- Dupuytren's Contracture and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00