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Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

作者信息

Rigante Donato, Stellacci Emilia, Leoni Chiara, Onesimo Roberta, Radio Francesca Clementina, Pizzi Simone, Giorgio Valentina, Tornesello Assunta, Tartaglia Marco, Zampino Giuseppe

机构信息

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica Del Sacro Cuore, Rome, Italy.

Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.

出版信息

Immunol Lett. 2020 Sep;225:64-65. doi: 10.1016/j.imlet.2020.06.012. Epub 2020 Jun 24.

DOI:10.1016/j.imlet.2020.06.012
PMID:32592741
Abstract
摘要

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引用本文的文献

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Front Pediatr. 2023 Mar 2;11:1001222. doi: 10.3389/fped.2023.1001222. eCollection 2023.
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