A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus
por: Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano
| Formato: | Article |
|---|---|
| Publicado: | Wiley 2019-12-01 |
Descripción
Abstract 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.