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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Detalles Bibliográficos
Autores principales: Sollid, Johanne Emy, Joshi, Shivani, Pulczynska Wason, Malgorzata, Rittig, Søren, Hvarregaard Christensen, Jane, Kamperis, Konstantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670377/
https://www.ncbi.nlm.nih.gov/pubmed/33251249
http://dx.doi.org/10.1159/000508786

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670377/
https://www.ncbi.nlm.nih.gov/pubmed/33251249
http://dx.doi.org/10.1159/000508786

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