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Article

ARC syndrome.

The Turkish journal of pediatrics - 1 Jan 2017

Mutlu Mehmet, Aslan Yakup, Aktürk-Acar Filiz, Çakır Murat, Erduran Erol, Kalyoncu Mukaddes

Abstract excerpt

Mutlu M, Aslan Y, Aktürk-Acar F, Çakır M, Erduran E, Kalyoncu M. ARC syndrome. Turk J Pediatr 2017; 59: 487-490. Arthrogryposis-renal dysfunction-cholestasis (ARC) is an autosomal recessive multisystem disorder characterized by arthrogryposis, renal tubular dysfunction and neonatal cholestasis with low gamma glutamyl transpeptidase activity. Most of the mutations in ARC syndrome are associated with the vacuolar...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29624233
DOI: 10.24953/turkjped.2017.04.019

Genes

ARC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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