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
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.
Yu L et al.
Bmc Nephrology, 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 New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.
Adamczyk-Gruszka O et al.
The American Journal of Case Reports, 2021
A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival.
Del Brío Castillo R et al.
Jimd Reports, 2019
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