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

Dimitrios T Papadimitriou Kleanthis Kleanthous Emmanouil Manolakos Anatoly Tiulpakov Thomas Nikolopoulos Alexandros Delides Gerasimos Voros Argyrios Dinopoulos George Zoupanos Anastasios Papadimitriou Georgios Mastorakos Fumihiko Urano

Clin Case Rep

Washington University School of Medicine St. Louis MO.

Published: December 2019

Early and accurate diagnosis of WS (Williams Syndrome) is essential to manage its symptoms effectively.
Multidisciplinary approaches are recommended for treating related issues like DI/DM, hydronephrosis, and visual/psychiatric challenges.
The overall goal is to maintain the quality of life for individuals affected by WS through timely interventions.

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.

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935624	PMC
http://dx.doi.org/10.1002/ccr3.2494	DOI Listing

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