A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Author:
Affiliation:
1. Department of Dermatology; College of Medicine; Drexel University; Philadelphia Pennsylvania
2. Division of Pediatrics; Section of Dermatology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.13156/fullpdf
Reference5 articles.
1. Liver histology in the arthrogryposis multiplex congenital, renal dysfunction and cholestasis (ARC) syndrome: report of three new cases and review;Horslen;J Med Genet,1994
2. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features;Zhou;Ital J Pediatr,2014
3. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome;Gissen;Nat Genet,2004
4. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma;Sprecher;Am J Hum Genet,2005
5. Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B;Hershkovitz;Arch Dermatol,2008
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1. Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems;BMJ Case Reports;2023-05
2. Arthrogryposis-renal Dysfunction-cholestasis Syndrome;IRAN J NEONATOL;2021
3. A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome;Journal of Pediatric Gastroenterology & Nutrition;2019-08
4. CORVET, CHEVI and HOPS – multisubunit tethers of the endo-lysosomal system in health and disease;Journal of Cell Science;2019-05-15
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