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

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Title: A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Authors: 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.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Feb; Vol. 27 (2), pp. 101334. Date of Electronic Publication: 2024 Nov 21.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
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  Data: <searchLink fieldCode="AU" term="%22Boulouadnine+B%22">Boulouadnine B</searchLink>; De Duve Institute, University of Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Filser+M%22">Filser M</searchLink>; Department of Genetics, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leducq+C%22">Leducq C</searchLink>; De Duve Institute, University of Louvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Losole+T%22">Losole T</searchLink>; Department of Pediatric Hematology/Oncology, University of Nebraska Medical Center, Children's Nebraska, Omaha, NE.<br /><searchLink fieldCode="AU" term="%22Bies+J%22">Bies J</searchLink>; Department of Pediatric Hematology/Oncology, University of Nebraska Medical Center, Children's Nebraska, Omaha, NE.<br /><searchLink fieldCode="AU" term="%22Smetsers+S%22">Smetsers S</searchLink>; Princess Maxima Center for pediatric oncology, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kouwenberg+D%22">Kouwenberg D</searchLink>; Princess Maxima Center for pediatric oncology, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Lange+I%22">de Lange I</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht University, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Mensenkamp+A%22">Mensenkamp A</searchLink>; Diagnostic laboratory of the Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kordes+UR%22">Kordes UR</searchLink>; Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Minard-Colin+V%22">Minard-Colin V</searchLink>; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Orbach+D%22">Orbach D</searchLink>; SIREDO Oncology Center (Care, Innovation and Research for Children, Adolescents and Young Adults with Cancer), PSL University, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Brichard+B%22">Brichard B</searchLink>; Department of Pediatric Hematology and Oncology, Cliniques Universitaires Saint-Luc, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22de+Krijger+R%22">de Krijger R</searchLink>; Princess Maxima Center for pediatric oncology, Utrecht, The Netherlands; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Masliah-Planchon+J%22">Masliah-Planchon J</searchLink>; Department of Genetics, Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Demoulin+JB%22">Demoulin JB</searchLink>; De Duve Institute, University of Louvain, Brussels, Belgium. Electronic address: jb.demoulin@uclouvain.be.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Feb; Vol. 27 (2), pp. 101334. <i>Date of Electronic Publication: </i>2024 Nov 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
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              Text: 2025 Feb
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