Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A
Stellacci, Emilia, Onesimo, Roberta, Bruselles, Alessandro, Pizzi, Simone, Battaglia, Domenica, Leoni, Chiara, Zampino, Giuseppe, Tartaglia, MarcoLanguage:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37681
Date:
June, 2016
File:
PDF, 798 KB
english, 2016