Associated Papers
Exome Sequencing in Adults with Unexplained Liver Disease: Diagnostic Yield and Clinical Impact.
Moral K et al.
Diagnostics (basel, Switzerland), 2025
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Zhou Y et al.
Italian Journal of Pediatrics, 2014
[The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].
Lan T et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H et al.
Human Mutation, 2012
Clinical and molecular genetic features of ARC syndrome.
Gissen P et al.
Human Genetics, 2006
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