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

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old female infant...

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Veröffentlicht in:	Zhongguo dang dai er ke za zhi 2017-10, Vol.19 (10), p.1077
Hauptverfasser:	Huang, Da-Gui, Liu, Jia-Jia, Guo, Li, Song, Yuan-Zong
Format:	Artikel
Sprache:	chi
Schlagworte:	Arthrogryposis - blood Arthrogryposis - genetics Bile Acids and Salts - blood Bilirubin - blood Cholestasis - blood Cholestasis - genetics Humans Mutation Renal Insufficiency - blood Renal Insufficiency - genetics Vesicular Transport Proteins - genetics
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