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.

Detalles Bibliográficos
Autores principales: Papadimitriou, Dimitrios T., Kleanthous, Kleanthis, Manolakos, Emmanouil, Tiulpakov, Anatoly, Nikolopoulos, Thomas, Delides, Alexandros, Voros, Gerasimos, Dinopoulos, Argyrios, Zoupanos, George, Papadimitriou, Anastasios, Mastorakos, Georgios, Urano, Fumihiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935624/
https://www.ncbi.nlm.nih.gov/pubmed/31893057
http://dx.doi.org/10.1002/ccr3.2494
Descripción
Sumario: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.

Ejemplares similares