_:vb50937548 . _:vb50937548 . _:vb50937548 . _:vb50937548 "url:https://www.ncbi.nlm.nih.gov/pubmed/16896922"^^ . _:vb50937548 "url:https://www.ncbi.nlm.nih.gov/pubmed/22753090"^^ . _:vb50937548 "url:https://www.ncbi.nlm.nih.gov/pubmed/24415890"^^ . _:vb50937548 . _:vb50937548 "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."^^ . _:vb50937548 . _:vb50937548 . _:vb50937548 "url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome"^^ .