Associated Papers
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Penon-Portmann M et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
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
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
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
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