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Article

Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation - 1 Jun 2013

Dehghani Seyed Mohsen, Bahador Ali, Nikeghbalian Saman, Salahi Heshmatollah, Geramizadeh Bita, Malekpour Abdorrasoul, Malek-Hosseini Seyed Ali

Abstract excerpt

Arthrogryposis-renal tubular dysfunction-cholestasis syndrome (MIM No. 208085) is a rare multisystem disorder involving the liver, kidney, skin, and central nervous and musculoskeletal systems. The syndrome is an autosomal-recessive trait, associated with germ-line mutations in the VPS33B gene. We report an Iranian boy of consanguineous cousin parents who had congenital deformities of the upper and lower...

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Identifiers

PMID: 23190456
DOI: 10.6002/ect.2012.0202

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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