Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

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 haemorrhag...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2635429/
https://ncbi.nlm.nih.gov/pubmed/18853461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20900
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