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Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene
Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder caused by mutations of the arginine vasopressin (AVP) V2 receptor or aquaporin 2 (AQP2) genes. The current study presented the case of CNDI in a 1-month-old male with a novel mutation in the AQP2 gene. The patient was referred due t...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4051480/ https://ncbi.nlm.nih.gov/pubmed/24944815 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2014.283 |
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