Fiche publication
Date publication
novembre 2025
Journal
Clinical dysmorphology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Gladkauskas T, Cristea I, Mehrasa R, Bruland O, Rustad CF, Faivre L, Rødahl E, Bredrup C
Lien Pubmed
Résumé
Kosaki overgrowth syndrome (KOGS) is a rare genetic disorder linked to germline variants in the platelet-derived growth factor receptor beta gene (PDGFRB) that is characterized by postnatal overgrowth, hyperelastic skin, lipodystrophy, and craniofacial anomalies. This study aimed to summarize clinical and genetic data from reported KOGS cases and investigate the molecular consequences of two recurrent KOGS-associated PDGFRB variants.
Mots clés
Kosaki overgrowth syndrome, germline activating mutations, imatinib, receptor tyrosine kinase, tyrosine kinase inhibitors
Référence
Clin Dysmorphol. 2025 11 12;:
