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A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus
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.
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935624/ https://www.ncbi.nlm.nih.gov/pubmed/31893057 http://dx.doi.org/10.1002/ccr3.2494 |
| _version_ | 1783483605085847552 |
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| author | Papadimitriou, Dimitrios T. Kleanthous, Kleanthis Manolakos, Emmanouil Tiulpakov, Anatoly Nikolopoulos, Thomas Delides, Alexandros Voros, Gerasimos Dinopoulos, Argyrios Zoupanos, George Papadimitriou, Anastasios Mastorakos, Georgios Urano, Fumihiko |
| author_facet | Papadimitriou, Dimitrios T. Kleanthous, Kleanthis Manolakos, Emmanouil Tiulpakov, Anatoly Nikolopoulos, Thomas Delides, Alexandros Voros, Gerasimos Dinopoulos, Argyrios Zoupanos, George Papadimitriou, Anastasios Mastorakos, Georgios Urano, Fumihiko |
| author_sort | Papadimitriou, Dimitrios T. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6935624 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-69356242019-12-31 A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus Papadimitriou, Dimitrios T. Kleanthous, Kleanthis Manolakos, Emmanouil Tiulpakov, Anatoly Nikolopoulos, Thomas Delides, Alexandros Voros, Gerasimos Dinopoulos, Argyrios Zoupanos, George Papadimitriou, Anastasios Mastorakos, Georgios Urano, Fumihiko Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-10-23 /pmc/articles/PMC6935624/ /pubmed/31893057 http://dx.doi.org/10.1002/ccr3.2494 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Case Reports Papadimitriou, Dimitrios T. Kleanthous, Kleanthis Manolakos, Emmanouil Tiulpakov, Anatoly Nikolopoulos, Thomas Delides, Alexandros Voros, Gerasimos Dinopoulos, Argyrios Zoupanos, George Papadimitriou, Anastasios Mastorakos, Georgios Urano, Fumihiko A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| title | A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| title_full | A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| title_fullStr | A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| title_full_unstemmed | A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| title_short | A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| title_sort | novel detrimental homozygous mutation in the wfs1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus |
| topic | Case Reports |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935624/ https://www.ncbi.nlm.nih.gov/pubmed/31893057 http://dx.doi.org/10.1002/ccr3.2494 |
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