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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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| Udgivet i: | Case Rep Nephrol Dial |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
S. Karger AG
2017
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| 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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