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Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVP...

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Bibliografiske detaljer
Udgivet i:Case Rep Nephrol Dial
Main Authors: Joshi, Shivani, Brandstrom, Per, Gregersen, Niels, Rittig, Søren, Christensen, Jane Hvarregaard
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5696758/
https://ncbi.nlm.nih.gov/pubmed/29177155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000480009
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