Associated Papers
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.
Kafol J et al.
Orphanet Journal of Rare Diseases, 2024
Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.
Satomura Y et al.
Journal of Medical Case Reports, 2022
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report.
Zhu Y et al.
Frontiers in Pediatrics, 2022
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