VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review
Orphanet J Rare Dis. 2024 Dec 30;19(1):496. doi: 10.1186/s13023-024-03486-2. ABSTRACT BACKGROUND: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the …