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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 | 2019-01-01

REPOSITORIES: biostudies

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