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Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.
Paparella, Roberto; Caroleo, Anna Maria; Agolini, Emanuele; Chillemi, Giovanni; Miele, Evelina; Pedace, Lucia; Rinelli, Martina; Pizzi, Simone; Boccuto, Luigi; Colafati, Giovanna Stefania; Lodi, Mariachiara; Cacchione, Antonella; Carai, Andrea; Digilio, Maria Cristina; Tomà, Paolo; Tartaglia, Marco; Mastronuzzi, Angela.
  • Paparella R; Department of Maternal and Child Health and Urology, Sapienza University of Rome, Rome, Italy.
  • Caroleo AM; Department of Onco-Hematology, Cell Therapy, Gene Therapy and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Agolini E; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Chillemi G; Department for Innovation in Biological, Agri-food and Forestry Systems, Tuscia University, Viterbo, Italy.
  • Miele E; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, National Research Center, Bari, Italy.
  • Pedace L; Department of Onco-Hematology, Cell Therapy, Gene Therapy and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Rinelli M; Department of Onco-Hematology, Cell Therapy, Gene Therapy and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Pizzi S; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Boccuto L; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Colafati GS; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, South Carolina, USA.
  • Lodi M; Neuroradiology Unit, Department of Imaging, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Cacchione A; Department of Onco-Hematology, Cell Therapy, Gene Therapy and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carai A; Department of Onco-Hematology, Cell Therapy, Gene Therapy and Hemopoietic Transplant, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Digilio MC; Neurosurgery Unit, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Tomà P; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Tartaglia M; Department of Imaging, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Mastronuzzi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Am J Med Genet A ; 188(9): 2796-2802, 2022 09.
Article en En | MEDLINE | ID: mdl-35689525
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ependimoma Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ependimoma Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Humans / Male Idioma: En Año: 2022 Tipo del documento: Article