A Pediatric Case of -related Nephrogenic Syndrome of Inappropriate Antidiuresis
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked genetic condition caused by a gain-of-function mutation of arginine vasopressin receptor 2 gene, AVPR2. We report the case of a male neonate diagnosed with NSIAD based on his DNA sequence of the AVPR2 gene and the clinical...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Korean Society of Pediatric Nephrology
2020-10-01
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| Col·lecció: | Childhood Kidney Diseases |
| Matèries: | |
| Accés en línia: | http://www.chikd.org/upload/ckd-24-2-126.pdf |
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