A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
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ABSTRACT:
SUBMITTER: Papadimitriou DT
PROVIDER: S-EPMC6935624 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
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A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
Papadimitriou Dimitrios T DT Kleanthous Kleanthis K Manolakos Emmanouil E Tiulpakov Anatoly A Nikolopoulos Thomas T Delides Alexandros A Voros Gerasimos G Dinopoulos Argyrios A Zoupanos George G Papadimitriou Anastasios A Mastorakos Georgios G Urano Fumihiko F
Clinical case reports 20191023 12
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. ...[more]
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