@article{ae024b5c650f405dae2f7a8135b33ec1,
title = "Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome",
abstract = "Two patients with cardio-facio-cutaneous syndrome having the same specific MAP2K1 variant, are reported: both show a symptomless immunoglobulin deficiency",
keywords = "Immunoglobulin deficiency, Immunoglobulin deficiency",
author = "Chiara Leoni and Marta Tedesco and Roberta Onesimo and Valentina Giorgio and Donato Rigante and Giuseppe Zampino",
year = "2020",
doi = "10.1016/j.imlet.2020.08.009",
language = "English",
volume = "2020",
pages = "79--80",
journal = "Immunology Letters",
issn = "0165-2478",
publisher = "Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL:
[email protected], INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598",
}