Article
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.
Clinical immunology (Orlando, Fla.) - 1 Mar 2018
Lougaris Vassilios, Chou Janet, Baronio Manuela, Gazzurelli Luisa, Lorenzini Tiziana, Soresina Annarosa, Moratto Daniele, Badolato Raffaele, Seleman Michael, Bellettato Massimo, Geha Raif S, Plebani Alessandro
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