Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Histomorphological Features of a Liver Explant From an Adult With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Case Report and Literature Review.

International journal of surgical pathology - 1 Sept 2026

Moustafa Mohamed, Peng Lan, Chi Zhikai

Abstract excerpt

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare, early-lethal disorder caused by VPS33B or VIPAS39 gene mutations. We report a female patient in her early twenties with genetically confirmed ARC syndrome harboring the compound heterozygous mutations VPS33B c.242delT and c.1726T>C. The patient's liver dysfunction progressed to decompensation and subsequently she underwent a liver transplant....

Topics

Join the communities discussing this publication.

Arthrogryposis
Cholestasis
Liver
Liver Transplantation
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Renal Insufficiency

Vesicular Transport Proteins

Source

Identifiers

PMID: 41923461
DOI: 10.1177/10668969261437755

Genes

ARC
VPS33B
VIPAS39

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Histomorphological Features of a Liver Explant From an Adult With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Case Report and Literature Review.PMID 41923461Read ↗

One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype.Semantic proximity Read ↗

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

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndromeSemantic proximity Read ↗

Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.Semantic proximity Read ↗

Liver Disease in GLIS3 Mutations: Transplant Considerations and Bile Duct Paucity on Explant Histology.Semantic proximity Read ↗

Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.Semantic proximity Read ↗

[Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].Semantic proximity Read ↗

A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome.Semantic proximity Read ↗

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.Semantic proximity Read ↗

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype.Semantic proximity Read ↗

Hepatic dysfunction in two sibs with Alström syndrome: Case report and review of the literatureSemantic proximity Read ↗

Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.