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Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome

2 Jul 2012

Abstract excerpt

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...

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PMID: 22753090
DOI: 10.1002/humu.22155

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