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 Urano

Published 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.

Keyphrases

type diabetes
glycemic control
cardiovascular disease
mental health
genome wide
gene expression
biofilm formation
adipose tissue
smoking cessation