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A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia.
Marzollo, Antonio; Maestrini, Giacomo; La Starza, Roberta; Elia, Loredana; Malfona, Francesco; Pierini, Tiziana; Tretti Parenzan, Caterina; Coppe, Alessandro; Bortoluzzi, Stefania; Biffi, Alessandra; Mecucci, Cristina; Bresolin, Silvia; Testi, Anna Maria.
Afiliación
  • Marzollo A; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Maestrini G; Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
  • La Starza R; Department of Medicine, Section of Hematology and Center for Hemato-Oncology Research CREO, Cytogenetics and Molecular Medicine Laboratory, University of Perugia, Perugia, Italy.
  • Elia L; Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
  • Malfona F; Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
  • Pierini T; Department of Medicine, Section of Hematology and Center for Hemato-Oncology Research CREO, Cytogenetics and Molecular Medicine Laboratory, University of Perugia, Perugia, Italy.
  • Tretti Parenzan C; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Coppe A; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Bortoluzzi S; Department of Biology, University of Padova, Italy.
  • Biffi A; Department of Molecular Medicine, University of Padova, Padova, Italy.
  • Mecucci C; Interdepartmental Research Center for Innovative Biotechnologies (CRIBI), University of Padova, Padova, Italy.
  • Bresolin S; Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Testi AM; Istituto di Ricerca Pediatrica, Città della Speranza, Padova, Italy.
Am J Hematol ; 95(12): E335-E338, 2020 12.
Article en En | MEDLINE | ID: mdl-32936972

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mutación de Línea Germinal / Leucemia-Linfoma Linfoblástico de Células T Precursoras / Fosfatidilinositol 3-Quinasa Clase Ia / Trastornos del Crecimiento / Hipercalcemia / Enfermedades Metabólicas / Nefrocalcinosis Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hematol Año: 2020 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Mutación de Línea Germinal / Leucemia-Linfoma Linfoblástico de Células T Precursoras / Fosfatidilinositol 3-Quinasa Clase Ia / Trastornos del Crecimiento / Hipercalcemia / Enfermedades Metabólicas / Nefrocalcinosis Tipo de estudio: Risk_factors_studies Idioma: En Revista: Am J Hematol Año: 2020 Tipo del documento: Article