A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
Dimitrios T. PapadimitriouKleanthis KleanthousEmmanouil ManolakosAnatoly TiulpakovThomas NikolopoulosAlexandros DelidesGerasimos VorosArgyrios DinopoulosGeorge ZoupanosAnastasios PapadimitriouGeorgios MastorakosFumihiko UranoPublished in: Clinical case reports (2019)
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.