A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia

Am J Hematol. 2020 Dec;95(12):E335-E338. doi: 10.1002/ajh.25998. Epub 2020 Sep 30.

Antonio Marzollo¹, Giacomo Maestrini², Roberta La Starza³, Loredana Elia², Francesco Malfona², Tiziana Pierini³, Caterina Tretti Parenzan¹, Alessandro Coppe^{1

4}, Stefania Bortoluzzi^{5

6}, Alessandra Biffi^{1

7}, Cristina Mecucci³, Silvia Bresolin^{1

7}, Anna Maria Testi²

¹ Pediatric Hematology-Oncology Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.
² Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
³ Department of Medicine, Section of Hematology and Center for Hemato-Oncology Research CREO, Cytogenetics and Molecular Medicine Laboratory, University of Perugia, Perugia, Italy.
⁴ Department of Biology, University of Padova, Italy.
⁵ Department of Molecular Medicine, University of Padova, Padova, Italy.
⁶ Interdepartmental Research Center for Innovative Biotechnologies (CRIBI), University of Padova, Padova, Italy.
⁷ Istituto di Ricerca Pediatrica, Città della Speranza, Padova, Italy.

No abstract available

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