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

Clinical Case Reports (2019) 7(12) 2355-2357
DOI: 10.1002/ccr3.2494
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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.

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Papadimitriou, D. T., Kleanthous, K., Manolakos, E., Tiulpakov, A., Nikolopoulos, T., Delides, A., … Urano, F. (2019). A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus. Clinical Case Reports, 7(12), 2355–2357. https://doi.org/10.1002/ccr3.2494

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