Associated Papers
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Hahn JW et al.
Journal of Gastroenterology and Hepatology, 2024
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
Satomura Y et al.
Journal of Medical Case Reports, 2022
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.
Linhares ND et al.
Frontiers in Genetics, 2022
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report.
Zhu Y et al.
Frontiers in Pediatrics, 2022
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
Qiu YL et al.
Human Mutation, 2019
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease.
van der Beek J et al.
Journal of Cell Science, 2019
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Cho Y et al.
Scientific Reports, 2017
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Seo SH et al.
Clinical Genetics, 2015
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Zhou Y et al.
Italian Journal of Pediatrics, 2014
ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
Wang JS et al.
World Journal of Gastroenterology, 2014
[The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].
Lan T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H et al.
Human Mutation, 2012
Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.
Kim KM et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
Jang JY et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR et al.
Human Mutation, 2009