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The Journal of Experimental Medicine|February 3, 2017
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delayStefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.The New England Journal of Medicine|June 18, 2015
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive InfectionsKerry Dobbs, Cecilia Domínguez Conde, Shen-Ying Zhang, et al.Pageof 3