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Schimke immunoosseous dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child
Authors:Clinton Carroll MD  Akosua Badu‐Nkansah BS  Tracy Hunley MD  Alireza Baradaran‐Heravi MD  David Cortez PhD  Haydar Frangoul MD
Affiliation:1. Division of Pediatric Hematology/Oncology, Monroe Carell Jr. Children's Hospital, Vanderbilt University School of Medicine, , Nashville, Tennessee;2. Department of Biochemistry, Vanderbilt University School of Medicine, , Nashville, Tennessee;3. Division of Pediatric Nephrology, Monroe Carell Jr. Children's Hospital, Vanderbilt University School of Medicine, , Nashville, Tennessee;4. Department of Medical Genetics, University of British Columbia, Child & Family Research Institute, , Vancouver, British Columbia, Canada
Abstract:
Keywords:cancer predisposition syndrome  DNA damage response  replication stress response  Schimke immunoosseous dysplasia  SMARCAL1
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