ARC syndrome with high GGT cholestasis caused by VPS33B mutations

Gelijkaardige items

• Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China
  door: Li, Li-Ting, et al.
  Gepubliceerd in: (2014)
• A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival
  door: del Brío Castillo, Rodrigo, et al.
  Gepubliceerd in: (2019)
• A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
  door: Agakidou, Eleni, et al.
  Gepubliceerd in: (2020)
• A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
  door: Eleni Agakidou, et al.
  Gepubliceerd in: (2020-01-01)
• Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney
  door: Gupta, Vishal, et al.
  Gepubliceerd in: (2018)