Article
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
Human mutation - 1 Feb 2009
Cullinane Andrew R, Straatman-Iwanowska Anna, Seo Jeong K, Ko Jae S, Song Kyung S, Gizewska Maria, Gruszfeld Dariusz, Gliwicz Dorota, Tuysuz Beyhan, Erdemir Gulin, Sougrat Rachid, Wakabayashi Yoshiyuki, Hinds Rupert, Barnicoat Angela, Mandel Hanna, Chitayat David, Fischler Björn, Garcia-Cazorla Angels, Knisely A S, Kelly Deirdre A, Maher Eamonn R, Gissen Paul
Abstract excerpt
Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome is a multi-system autosomal recessive disorder caused by germline mutations in VPS33B. The detection of germline VPS33B mutations removes the need for diagnostic organ biopsies (these carry a>50% risk of life-threatening haemorrhage due to platelet dysfunction); however, VPS33B mutations are not detectable in approximately 25% of patients. In order...
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