A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status —maintaining quality of life—are of crucial importance. AbstractGiven the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status —maintaining quality of life—are of crucial importance.

Source: Clinical Case Reports - October 22, 2019 Category: General Medicine Authors: Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Ur Tags: CASE REPORT Source Type: research