Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Seo SH et al.
Clinical Genetics, 2015
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 characteristics and VPS33B mutations in patients with ARC syndrome.
Jang JY et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Cullinane AR et al.
Human Mutation, 2009
Clinical and molecular genetic features of ARC syndrome.
Gissen P et al.
Human Genetics, 2006
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Gissen P et al.
Nature Genetics, 2004
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