Discover Community Create You

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

[The complex phenotype of ARC syndrome: A new case].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Feb 2017

Giraud A, Ramond F, Cremillieux C, Touraine R, Patural H, Stephan J-L

Abstract excerpt

ARC syndrome (arthrogryposis - renal dysfunction - cholestasis) is a rare lethal multisystemic autosomal recessive disease. A newborn of consanguineous parents of Algerian descent presented cholestatic jaundice, dehydration, and Fanconi syndrome at 10 days of life. The blood smear showed a very characteristic gray appearance of platelets. A homozygous mutation was evidenced in the VPS33B gene. This gene codes for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis
Share to Cholestasis
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Genetic Carrier Screening

Share to Rare Diseases

Share to Renal Insufficiency

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 28007512
DOI: 10.1016/j.arcped.2016.11.004

Genes

ARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[The complex phenotype of ARC syndrome: A new case].PMID 28007512Read ↗

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

ARC syndrome.Semantic proximity Read ↗

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

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

ARC syndrome: an expanding range of phenotypes.Semantic proximity Read ↗

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeSemantic proximity Read ↗

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

Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.Semantic proximity Read ↗

A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.Semantic proximity Read ↗

Clinical and molecular genetic features of ARC syndrome.Semantic proximity Read ↗

[The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].Semantic proximity Read ↗

[Rare diseases with clinical relevance-the Silver-Russell syndrome].Semantic proximity Read ↗

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