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Article

A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1.

The American journal of case reports - 17 Sept 2021

Adamczyk-Gruszka Olga, Horecka-Lewitowicz Agata, Zmelonek-Znamirowska Anna, Gruszka Jakub, Koziel Dorota, Lewitowicz Piotr

Abstract excerpt

BACKGROUND ARCS1 is an acronym for arthrogryposis, renal dysfunction, and cholestasis. It is a congenital malfunction with autosomal recessive inheritance, and, unfortunately, its prognosis is still poor. It is believed that VPS33B is altered in 75% of cases and that the VIPAR gene is altered in approximately 25% of them. CASE REPORT An affected child was born from the first pregnancy of 26-year-old mother and a...

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Identifiers

PMID: 34531360
DOI: 10.12659/AJCR.932769
PMCID: PMC8455109

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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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