VPS33B-Gen

Gissen P et al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

Gissen P et al. (2006) Clinical and molecular genetic features of ARC syndrome.

Taha D et al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

Horslen SP et al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

Cullinane AR et al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

Carim L et al. (2000) Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.

Huizing M et al. (2001) Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

Eastham KM et al. (2001) ARC syndrome: an expanding range of phenotypes.

OMIM.ORG article

Orphanet article

NCBI article