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
Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome

DOI: 10.7499/j.issn.1008-8830.2017.10.009

Keywords: 关节挛缩、肾功能不全和胆汁淤积综合征,VPS33B基因,突变,儿童,
Arthrogryposis, renal dysfunction, and cholestasis syndrome,VPS33B gene,Gene mutation,Child

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