Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

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Title: Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.
Authors: Jost C; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Mussa A; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy., Kurtz JE; Département d'hématologie et d'oncologie, Institut de cancérologie Strasbourg Europe (ICANS), Strasbourg, France., Gokhul A; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, Department of Diagnostic Medicine, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Carli D; Clinical Pediatric Genetics Unit, Regina Margherita Children's Hospital, Torino, Italy., Gazzin A; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Isella C; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Medico E; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Cassisa A; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Cantarella D; Department of Oncology, University of Torino, Candiolo, Italy.; Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy., Naicker T; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Chateau A; Department of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa., Demoulin JB; De Duve Institute, Université Catholique de Louvain, Brussels, Belgium., Herold N; Division of Pediatric Oncology and Hematology, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Pediatric Oncology, Karolinska University Hospital Solna, Stockholm, Sweden., Bouhatous YM; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Mirakovska L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Maurer A; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Gaumet T; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France., Wenger T; Division of Medical Genetics, University of Washington, Seattle, USA., Iznardo H; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Baselga E; Pediatric Dermatology Department, Barcelona Children's Hospital Sant Joan de Déu, Barcelona, Spain., Mascaro JM; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., Bredrup C; Department of Ophthalmology, Haukeland University Hospital, Bergen, Norway., Kildal OA; Department of Pediatrics, Telemark Hospital, Skien, Norway., Gladkauskas T; Department of Clinical Medicine, University of Bergen, Bergen, Norway., Rustad CF; Department of Medical Genetics, Telemark Hospital, Skien, Norway., Svinvik IV; Department of Pediatrics, Oslo University Hospital, Oslo, Norway., Pond D; Genetics Clinic, Children's Hospitals & Clinics of Minnesota, Minneapolis, USA., Schaefer E; Department of Medical Genetics, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Luu M; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, Centre d'Investigations Cliniques Plurithématique 803 (CIC-P 803), Dijon, France., Bardou M; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, Centre d'Investigations Cliniques Plurithématique 803 (CIC-P 803), Dijon, France., Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de génétique, Centre de référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France. laurence.faivre@chu-dijon.fr.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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