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Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease

Dent’s disease is characterized by manifestations of proximal tubule dysfunction including hypercalciuria, kidney stones, proteinuria, rickets and progressively declining kidney function. The diagnosis is based on the presence of low-molecular-weight proteinuria, hypercalciuria and at least one of t...

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Detalles Bibliográficos
Autores principales:	Fischer, Anne Sophie, Marcussen, Niels, Rasmussen, Maria, Randers, Else
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Genetic Kidney Diseases
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070071/ https://www.ncbi.nlm.nih.gov/pubmed/30094009 http://dx.doi.org/10.1093/ckj/sfx123

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