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A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

Autor: Boulouadnine B; De Duve Institute, University of Louvain, Brussels, Belgium., Filser M; Department of Genetics, Institut Curie, Paris, France., Leducq C; De Duve Institute, University of Louvain, Brussels, Belgium., Losole T; Department of Pediatric Hematology/Oncology, University of Nebraska Medical Center, Children's Nebraska, Omaha, NE., Bies J; Department of Pediatric Hematology/Oncology, University of Nebraska Medical Center, Children's Nebraska, Omaha, NE., Smetsers S; Princess Maxima Center for pediatric oncology, Utrecht, The Netherlands., Kouwenberg D; Princess Maxima Center for pediatric oncology, Utrecht, The Netherlands., de Lange I; Department of Genetics, University Medical Center Utrecht, Utrecht University, The Netherlands., Mensenkamp A; Diagnostic laboratory of the Radboud University Medical Center, Nijmegen, The Netherlands., Kordes UR; Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Minard-Colin V; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Orbach D; SIREDO Oncology Center (Care, Innovation and Research for Children, Adolescents and Young Adults with Cancer), PSL University, Institut Curie, Paris, France., Brichard B; Department of Pediatric Hematology and Oncology, Cliniques Universitaires Saint-Luc, Brussels, Belgium., de Krijger R; Princess Maxima Center for pediatric oncology, Utrecht, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands., Masliah-Planchon J; Department of Genetics, Institut Curie, Paris, France., Demoulin JB; De Duve Institute, University of Louvain, Brussels, Belgium. Electronic address: jb.demoulin@uclouvain.be.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov 21; Vol. 27 (2), pp. 101334. Date of Electronic Publication: 2024 Nov 21.