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

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.

SUBMITTER: Papadimitriou DT 

PROVIDER: S-EPMC6935624 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature