Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

@inproceedings{Smith2012AssociationsAG,
  title={Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome},
  author={H. R. Cooper Smith and R Galmes and Ekaterina Gogolina and Anna Straatman-Iwanowska and Kim Reay and Blerida Banushi and Christopher K Bruce and Andrew Robert Cullinane and R. Rodr{\'i}guez Romero and Richard Che Shoa Chang and Oanez Ackermann and Clarisse Baumann and Hakan Cangul and Fatma Cakmak Çelik and Canan Aygun and Richard J. M. Coward and Carlo Dionisi-Vici and Barbara Sibbles and Carol I. Inward and Chong Ae Kim and Judith Klumperman and Alex S. Knisely and Steven P. Watson and Paul Gissen},
  booktitle={Human mutation},
  year={2012}
}
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in vacuolar protein sorting 33 homologue B (VPS33B) and VPS33B interacting protein, apical-basolateral polarity regulator (VIPAR). Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients with ARC do not survive past… CONTINUE READING
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