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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...
Uloženo v:
| Vydáno v: | Case Rep Nephrol Dial |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
S. Karger AG
2017
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| Témata: | |
| On-line přístup: | 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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