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Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.
Jiang, Bingcheng; Murray, Cameron; Cole, Bonnie L; Glover, J N Mark; Chan, Gordon K; Deschenes, Jean; Mani, Rajam S; Subedi, Sudip; Nerva, John D; Wang, Anthony C; Lockwood, Christina M; Mefford, Heather C; Leary, Sarah E S; Ojemann, Jeffery G; Weinfeld, Michael; Ene, Chibawanye I.
Afiliação
  • Jiang B; Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Ave., Edmonton, AB, T6G 1Z2, Canada.
  • Murray C; Department of Biochemistry, University of Alberta, Medical Sciences Building, Edmonton, AB, T6G 2H7, Canada.
  • Cole BL; Department of Pathology, University of Washington, Seattle, WA, USA.
  • Glover JNM; Department of Biochemistry, University of Alberta, Medical Sciences Building, Edmonton, AB, T6G 2H7, Canada.
  • Chan GK; Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Ave., Edmonton, AB, T6G 1Z2, Canada.
  • Deschenes J; Department of Laboratory Medicine and Pathology, University of Alberta, Cross Cancer Institute, 11560 University Ave., Edmonton, AB, T6G 1Z2, Canada.
  • Mani RS; Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Ave., Edmonton, AB, T6G 1Z2, Canada.
  • Subedi S; Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Ave., Edmonton, AB, T6G 1Z2, Canada.
  • Nerva JD; Department of Neurological Surgery, Tulane University, New Orleans, LA, USA.
  • Wang AC; Department of Neurological Surgery, University of California Los Angeles, Los Angeles, CA, USA.
  • Lockwood CM; Department of Laboratory Medicine, University of Washington, Seattle, WA, USA.
  • Mefford HC; Division of Genetics Medicine, University of Washington, Seattle, WA, USA.
  • Leary SES; Division of Pediatric Hematology/Oncology, Seattle Children's Hospital, Seattle, WA, USA.
  • Ojemann JG; Department of Neurological Surgery, University of Washington, Seattle, WA, USA.
  • Weinfeld M; Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Ave., Edmonton, AB, T6G 1Z2, Canada. mweinfel@ualberta.ca.
  • Ene CI; Department of Neurological Surgery, MD Anderson Cancer Center, Houston, TX, USA. cene@mdanderson.org.
Sci Rep ; 12(1): 5386, 2022 03 30.
Article em En | MEDLINE | ID: mdl-35354845
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Microcefalia Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Microcefalia Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Sci Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Canadá