In-depth immune profiling of a patient with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 caused by a novel mutation in ZBTB24.
对一名患有免疫缺陷、着丝粒不稳定和面部畸形综合征 2 型的患者进行深入的免疫分析,该综合征是由 ZBTB24 中的一种新突变引起的
期刊:Clinical and Experimental Immunology
影响因子:3.8
doi:10.1093/cei/uxaf016
Roark Colleen M, RamÃrez-Vásquez Diana, Giron Martinez Jenniffer Yissel, Zhen Xin, Del Bene Alexa N, Gibson Shannon E, Dobrose Megan M, Halasa Natasha B, Blancas-Galicia Lizbeth, Martinez-Barricarte Ruben