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Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell, Catherine E; Bender, Nicole R; Zimmermann, Michael T; Heusel, Jonathan W; Corliss, Meagan; Evenson, Michael J; Magrini, Vincent; Corsmeier, Donald J; Avenarius, Matthew; Dudley, Jeffrey N; Johnston, Jennifer J; Lindhurst, Marjorie J; Vigh-Conrad, Katinka; Davies, Olivia M T; Coughlin, Carrie C; Frieden, Ilona J; Tollefson, Megha; Zaenglein, Andrea L; Ciliberto, Heather; Tosi, Laura L; Semple, Robert K; Biesecker, Leslie G; Drolet, Beth A.
Afiliação
  • Cottrell CE; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.
  • Bender NR; Department of Pathology, The Ohio State University, Columbus, OH, USA.
  • Zimmermann MT; Department of Dermatology, University of Florida, Gainesville, FL, USA.
  • Heusel JW; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Corliss M; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Evenson MJ; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Magrini V; Department of Pathology & Immunology, Washington University School of Medicine, Saint Louis, MO, USA.
  • Corsmeier DJ; Department of Genetics, Washington University School of Medicine, Saint Louis, MO, USA.
  • Avenarius M; Department of Pathology & Immunology, Washington University School of Medicine, Saint Louis, MO, USA.
  • Dudley JN; Department of Pathology & Immunology, Washington University School of Medicine, Saint Louis, MO, USA.
  • Johnston JJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.
  • Lindhurst MJ; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA.
  • Vigh-Conrad K; Department of Pathology and Laboratory Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Davies OMT; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD, USA.
  • Coughlin CC; University of Michigan Medical School, Ann Arbor, MI, USA.
  • Frieden IJ; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD, USA.
  • Tollefson M; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD, USA.
  • Zaenglein AL; Division of Genetics, Oregon National Primate Research Center, Oregon Health & Science University, Portland, OR, USA.
  • Ciliberto H; Medical College of Wisconsin, Milwaukee, WI, USA.
  • Tosi LL; Division of Dermatology, Departments of Medicine and Pediatrics, Washington University School of Medicine, Saint Louis, MO, USA.
  • Semple RK; Department of Dermatology, University of California-San Francisco, San Francisco, CA, USA.
  • Biesecker LG; Departments of Dermatology and Pediatrics, Mayo Clinic, Rochester, MN, USA.
  • Drolet BA; Dermatology and Pediatrics, Penn State Hershey Medical Center, Hershey, PA, USA.
Genet Med ; 23(10): 1882-1888, 2021 10.
Article em En | MEDLINE | ID: mdl-34040190
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas dos Membros / Malformações Vasculares / Classe Ia de Fosfatidilinositol 3-Quinase Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas dos Membros / Malformações Vasculares / Classe Ia de Fosfatidilinositol 3-Quinase Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article