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A novel AVPR2 missense mutation in an Asian family with inherited nephrogenic diabetes insipidus: A case report
RATIONALE: X-linked nephrogenic diabetes insipidus (NDI) is a rare inherited disease, and is characterized by renal resistance to arginine vasopressin (AVP). Its diagnosis can be clinically challenging. The application of molecular genetic analysis can provide a rapid and definitive diagnosis. PATIE...
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| Veröffentlicht in: | Medicine (Baltimore) |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer Health
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6831311/ https://ncbi.nlm.nih.gov/pubmed/31027113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000015348 |
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