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A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus
OBJECTIVE: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a n...
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| 出版年: | J Clin Res Pediatr Endocrinol |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Galenos Publishing
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6280332/ https://ncbi.nlm.nih.gov/pubmed/29991464 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.0097 |
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