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A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus
We describe a paediatric case of nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 gene (AVPR2) in the absence of a family history of congenital polyuria. The patient, a 5-month-old Caucasian boy, had failure to thrive and hypernatraemia. On admission...
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| 出版年: | NDT Plus |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4421425/ https://ncbi.nlm.nih.gov/pubmed/25949462 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndtplus/sfq158 |
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