Associated Papers
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.
Linhares ND et al.
Frontiers in Genetics, 2022
35281816 (PubMed )
Supplement: Table1.XLSX › Supp_Table_1
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
A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.
Li Q et al.
Biology, 2021
33557414 (PubMed )
Supplement: biology-10-00119-s001.zip › biology-1064204-supplementary.pdf
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival.
Del Brío Castillo R et al.
Jimd Reports, 2019
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Zhou Y et al.
Italian Journal of Pediatrics, 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
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