An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions
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DOI: 10.1007/s00467-019-04336-1
Abstract: Arthrogryposis, renal dysfunction, and cholestasis syndrome is a rare autosomal recessive disorder caused by mutations in the VPS33B and VIPAR genes. Most cases are fatal within the first year of life. Here we describe one… read more here.
Keywords: renal dysfunction; arthrogryposis renal; dysfunction; dysfunction cholestasis ... See more keywords
A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1097/mpg.0000000000002306
Abstract: JPGN Volume 69, N CASE A 14-month-old boy with a history of moderate sensorineural hearing loss, language delay, and gross motor delay presents with several months of severe pruritus. His family tried over the counter… read more here.
Keywords: renal dysfunction; normal mmol; arthrogryposis renal; dysfunction cholestasis ... See more keywords
A Novel VPS33B Mutation in a Patient with Arthrogryposis‐Renal Dysfunction‐Cholestasis Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Dermatology"
DOI: 10.1111/pde.13156
Abstract: We report a case of arthrogryposis‐renal dysfunction‐cholestasis (ARC) syndrome in a girl with a novel VPS33B mutation. To our knowledge, this is the first reported case of ARC syndrome in the United States. read more here.
Keywords: renal dysfunction; vps33b mutation; dysfunction cholestasis; novel vps33b ... See more keywords
Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems
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DOI: 10.1136/bcr-2023-254822
Abstract: A male infant born out of non-consanguineous marriage to a primigravida presented to us as his third hospitalisation with ichthyotic lesions all over the body, cholestatic jaundice, multiple joint contractures and a history of recurrent… read more here.
Keywords: dysfunction cholestasis; cholestasis syndrome; arthrogryposis renal; renal dysfunction ... See more keywords
Arthrogryposis–renal dysfunction–cholestasis syndrome
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DOI: 10.1556/650.2022.32312
Abstract: Összefoglaló. Az arthrogryposis-renalis diszfunkció-cholestasis (ARC) szindróma igen rossz prognózisú autoszomális recesszív kórkép. A három vezető tünethez társulhat központi idegrendszeri érintettség, siketség, cardiovascularis anomália (pitvari és kamrai sövényhiány), thrombocytafunkció-zavar, rekurrens szepszisek, ichthyosis, valamint súlyfejlődésben való elmaradás.… read more here.
Keywords: renal dysfunction; dysfunction cholestasis; cholestasis; arthrogryposis renal ... See more keywords
Identification of genes and signaling pathways associated with arthrogryposis‑renal dysfunction‑cholestasis syndrome using weighted correlation network analysis.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of molecular medicine"
DOI: 10.3892/ijmm.2018.3768
Abstract: The present study aimed to identify the molecular basis of the arthrogryposis‑renal dysfunction‑cholestasis (ARC) syndrome, which is caused by mutations in the vacuolar protein sorting 33 homolog B (VPS33B) gene. The microarray dataset GSE83192, which… read more here.
Keywords: renal dysfunction; network; dysfunction cholestasis; analysis ... See more keywords