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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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Bibliografiske detaljer
Main Authors: PARK, YOUN JONG, BAIK, HAING WOON, CHEONG, HAE IL, KANG, JU HYUNG
Format: Artigo
Sprog:Inglês
Udgivet: D.A. Spandidos 2014
Fag:
Online adgang: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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