[Wiskott-Aldrich syndrome with special phenotypes: report of 3 cases].
作者信息
He Jian-Xin, Chen Guan-Rong, Xu Bao-Ping, Liu Xiu-Yun, Gui Jin-Gang, Shen Kun-Ling, Jiang Zai-Fang, Lau Yu-Lung
机构信息
Department of Respiratory Disease, Beijing Children's Hospital, Capital Medical University, 100045 Beijing, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Feb;19(2):250-253. doi: 10.7499/j.issn.1008-8830.2017.02.022.
Abstract
摘要
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本文引用的文献
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3
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