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

HORMONE RESEARCH IN PAEDIATRICS（2019）

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摘要

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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关键词

diabetes insipidus, diabetes mellitus, novel mutation, WFS1 gene, Wolfram syndrome

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