Wird geladen...

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Case Rep Nephrol Dial
Hauptverfasser: Joshi, Shivani, Brandstrom, Per, Gregersen, Niels, Rittig, Søren, Christensen, Jane Hvarregaard
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5696758/
https://ncbi.nlm.nih.gov/pubmed/29177155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000480009
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!