Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVP...

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Detalles Bibliográficos
Autores principales: Joshi, Shivani, Brandstrom, Per, Gregersen, Niels, Rittig, Søren, Christensen, Jane Hvarregaard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696758/
https://www.ncbi.nlm.nih.gov/pubmed/29177155
http://dx.doi.org/10.1159/000480009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696758/
https://www.ncbi.nlm.nih.gov/pubmed/29177155
http://dx.doi.org/10.1159/000480009

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