Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome

BACKGROUND: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a multisystem autosomal-recessive disorder caused by defects in the VPS33B and VIPAR genes, involved in localization of apical membrane proteins. Affected children usually die by 1 year of age, often secondary to infecti...

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Detalles Bibliográficos
Autores principales: Holme, Amelia, Hurcombe, Jennifer A., Straatman-Iwanowska, Anna, Inward, Carol I., Gissen, Paul, Coward, Richard J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432437/
https://www.ncbi.nlm.nih.gov/pubmed/26019847
http://dx.doi.org/10.1093/ckj/sfs182

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432437/
https://www.ncbi.nlm.nih.gov/pubmed/26019847
http://dx.doi.org/10.1093/ckj/sfs182

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