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A novel mutation in AVPR2 causing congenital nephrogenic diabetes insipidus with complete resistance to antidiuretic hormone

A 6-month-old male infant presented with failure to thrive. Hypernatraemia and elevated serum osmolality in the presence of low urine sodium and osmolality led to the diagnosis of diabetes insipidus. Administration of 1-deamino-8-D-arginine vasopressin (dDAVP) neither decreased urine volume nor incr...

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Detalles Bibliográficos
Autores principales:	Staffler, Alex, Benz, Marcus R., Weber, Lutz T., Holzinger, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2009
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421357/ https://www.ncbi.nlm.nih.gov/pubmed/25949307 http://dx.doi.org/10.1093/ndtplus/sfn192

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