TY - JOUR
TI - A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus
AU - Papadimitriou, D.T.
AU - Kleanthous, K.
AU - Manolakos, E.
AU - Tiulpakov, A.
AU - Nikolopoulos, T.
AU - Delides, A.
AU - Voros, G.
AU - Dinopoulos, A.
AU - Zoupanos, G.
AU - Papadimitriou, A.
AU - Mastorakos, G.
AU - Urano, F.
JO - Clinical Case Reports
PY - 2019
VL - 7
TODO - 12
SP - 2355-2357
PB - Wiley-Blackwell Publishing Ltd
SN - 2050-0904
TODO - 10.1002/ccr3.2494
TODO - fludrocortisone;  hemoglobin A1c;  idebenone;  insulin degludec, adult;  amenorrhea;  Article;  autopsy;  bladder catheterization;  case report;  child;  clinical article;  cranial nerve;  depression;  diabetes insipidus;  diabetes mellitus;  diuresis;  echography;  eye examination;  female;  gene;  gene mutation;  genetic analysis;  human;  hypoglycemia;  insomnia;  intraocular pressure;  male;  marriage;  nonconsanguineous parent;  optic nerve atrophy;  polymerase chain reaction;  polyuria;  priority journal;  Sanger sequencing;  school child;  sister;  tympanometry;  urine incontinence;  visual acuity;  WFS1 gene;  young adult
TODO - 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. © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd
ER -