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Three Pediatric Patients with Congenital Nephrogenic Diabetes Insipidus due to AVPR2 Nonsense Mutations and Different Clinical Manifestations: A Case Report
Congenital nephrogenic diabetes insipidus (CNDI), a rare hereditary disorder, is characterized by the inability of the kidneys to concentrate urine in response to the antidiuretic hormone arginine vasopressin (AVP); as a result, large volumes of unconcentrated urine are excreted. In addition to the...
Autores principales: | Watanabe, Hijiri, Tamura, Hiroshi, Furuie, Keishiro, Kuraoka, Shohei, Nakazato, Hitoshi |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601857/ https://www.ncbi.nlm.nih.gov/pubmed/37900924 http://dx.doi.org/10.1159/000533895 |
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