Two patients with cardio-facio-cutaneous syndrome having the same specific MAP2K1 variant, are reported: both show a symptomless immunoglobulin deficiency
Leoni, C., Tedesco, M., Onesimo, R., Giorgio, V., Rigante, D., Zampino, G., Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome, <<IMMUNOLOGY LETTERS>>, 2020; 2020 (227): 79-80. [doi:10.1016/j.imlet.2020.08.009] [http://hdl.handle.net/10807/160848]
Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome
Tedesco, Marta;Onesimo, Roberta;Giorgio, Valentina;Rigante, Donato;Zampino, Giuseppe
2020
Abstract
Two patients with cardio-facio-cutaneous syndrome having the same specific MAP2K1 variant, are reported: both show a symptomless immunoglobulin deficiency
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