Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not...

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Detalles Bibliográficos
Autores principales: Rosales, Alejandra, Mhibik, Maissa, Gissen, Paul, Segarra, Oscar, Redecillas, Susana, Ariceta, Gema
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003143/
https://www.ncbi.nlm.nih.gov/pubmed/29907094
http://dx.doi.org/10.1186/s12882-018-0926-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003143/
https://www.ncbi.nlm.nih.gov/pubmed/29907094
http://dx.doi.org/10.1186/s12882-018-0926-1

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