%0 Journal Article
%T 关节挛缩、肾功能不全和胆汁淤积综合征一家系临床特点及VPS33B基因突变分析<br>Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome
%A 黄大桂
%A 刘佳佳
%A 郭丽
%A 宋元宗&lt
%A br&gt
%A HUANG Da-Gui
%A LIU Jia-Jia
%A GUO Li
%A SONG Yuan-Zong
%J 中国当代儿科杂志
%D 2017
%R 10.7499/j.issn.1008-8830.2017.10.009
%K 关节挛缩、肾功能不全和胆汁淤积综合征
%K VPS33B基因
%K 突变
%K 儿童
%K &lt
%K br&gt
%K Arthrogryposis
%K renal dysfunction
%K and cholestasis syndrome
%K VPS33B gene
%K Gene mutation
%K Child
%U http://www.zgddek.com/CN/abstract/abstract14386.shtml