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Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy

Patients affected with congenital nephrogenic diabetes insipidus (CNDI) have reduced ability to concentrate urine. Early diagnosis of CNDI is important to avoid recurrent episodes of severe dehydration. We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7...

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Détails bibliographiques
Publié dans:Case Rep Nephrol Dial
Auteurs principaux: Sollid, Johanne Emy, Joshi, Shivani, Pulczynska Wason, Malgorzata, Rittig, Søren, Hvarregaard Christensen, Jane, Kamperis, Konstantinos
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2020
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7670377/
https://ncbi.nlm.nih.gov/pubmed/33251249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000508786
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