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A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus
- Source :
- Clinical Case Reports, Vol 7, Iss 12, Pp 2355-2357 (2019)
- Publication Year :
- 2019
- Publisher :
- Wiley, 2019.
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 20500904
- Volume :
- 7
- Issue :
- 12
- Database :
- Directory of Open Access Journals
- Journal :
- Clinical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.193939cdb946a8b14e718c1ae90a0f
- Document Type :
- article
- Full Text :
- https://doi.org/10.1002/ccr3.2494