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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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2009
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Article
Länkar: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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