Article
ARC syndrome.
The Turkish journal of pediatrics - 1 Jan 2017
Mutlu Mehmet, Aslan Yakup, Aktürk-Acar Filiz, Çakır Murat, Erduran Erol, Kalyoncu Mukaddes
Abstract excerpt
Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar...
Topics
- Arthrogryposis
- Cholestasis
- Fatal Outcome
- Female
- Homozygote
- Humans
- Infant, Newborn
- Mutation
- Renal Insufficiency
- Vesicular Transport Proteins